E. Zackai

发表

Microduplications of 16p11.2 are Associated with Schizophrenia

Jessica R. Wolff, J. Sebat, B. Lakshmi, 2009, Nature Genetics.

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

Marni J. Falk, E. Zackai, Mindy H. Li, 2021, American journal of medical genetics. Part A.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery.

E. Zackai, P. Heagerty, A. Saunders, 2003, The Journal of thoracic and cardiovascular surgery.

The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery.

E. Zackai, G. Jarvik, S. Nicolson, 2006, The Journal of thoracic and cardiovascular surgery.

Apolipoprotein E Genotype Modifies the Risk of Behavior Problems After Infant Cardiac Surgery

E. Zackai, P. Heagerty, G. Jarvik, 2009, Pediatrics.

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.

E. Zackai, C. Bearden, A. Jawad, 2004, The American journal of psychiatry.

Growth charts for children with Down syndrome: 1 month to 18 years of age.

E. Zackai, R. Reed, S. Pueschel, 1988, Pediatrics.

22q11.2 deletion syndrome.

Peter J. Scambler, Lauren A. Bohm, Anne S. Bassett, 2015, Nature reviews. Disease primers.

22q11.2 deletion syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, E. Zackai, 2017, American journal of medical genetics. Part A.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Stephen T Warren, Somayyeh Fahiminiya, E. Zackai, 2012, Journal of Medical Genetics.

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Jeffrey C. Murray, Michael J. Dixon, Andrew C. Lidral, 2002, Nature Genetics.

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

E. Zackai, M. Simpson, M. Patton, 2007, American journal of human genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

E. Zackai, C. Morris, A. Rope, 2008, Genetics in Medicine.

A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis

Ryoichiro Kageyama, Sally L. Dunwoodie, Kenro Kusumi, 2012, Cell.

The Neurocognitive Phenotype of the 22Q11.2 Deletion Syndrome: Selective Deficit in Visual-Spatial Memory

Tyrone D. Cannon, E. Zackai, C. Bearden, 2001, Journal of clinical and experimental neuropsychology.

Visuospatial and Numerical Cognitive Deficits in Children with Chromosome 22Q11.2 Deletion Syndrome

Tony J. Simon, Carrie E. Bearden, Elaine Zackai, 2005, Cortex.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

E. Zackai, B. Morrow, K. Devriendt, 2017, American journal of human genetics.

10‐year‐old female with intragenic KANSL1 mutation, no KANSL1‐related intellectual disability, and preserved verbal intelligence

E. Zackai, H. Dubbs, C. Samango-Sprouse, 2017, American journal of medical genetics. Part A.

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Marni J. Falk, E. Zackai, E. Mercuri, 2015, Journal of Medical Genetics.

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

E. Zackai, I. Krantz, N. Spinner, 2004, American journal of medical genetics. Part A.

Oriinal articles Paternal transmission ofcongenital myotonic dystrophy

E. Zackai, J. Kant, 1994 .

Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence

E. Zackai, D. Waggoner, D. McDonald-McGinn, 2013, American journal of medical genetics. Part A.

The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

Sunny X. Tang, E. Zackai, R. Gur, 2017, Journal of psychiatric research.

Disrupted anatomic networks in the 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2016, NeuroImage: Clinical.

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

E. Zackai, L. Biesecker, M. Muenke, 1993, American journal of human genetics.

Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

E. Zackai, Soma Das, A. Toutain, 2004, Human mutation.

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

E. Zackai, L. Medne, A. Garg, 2010, American journal of medical genetics. Part A.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Lisa T. Emrick, Julie C. Sapp, J. Rosenfeld, 2017, Genetics in Medicine.

Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia.

E. Zackai, R. Gur, T. Moore, 2021, JAMA psychiatry.

Intracranial visual pathway gliomas in children with neurofibromatosis.

E. Zackai, R. Zimmerman, L. Bilaniuk, 1988, Neurofibromatosis.

Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns.

E. Zackai, D. McDonald-McGinn, C. Solot, 2019, International journal of pediatric otorhinolaryngology.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Robert W. Mills, A J Agopian, Jonathan H. Chung, 2017, Circulation. Cardiovascular genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Results of Genome-Wide Analyses on Neurodevelopmental Phenotypes at Four-Year Follow-Up following Cardiac Surgery in Infancy

E. Zackai, H. Hakonarson, D. Nickerson, 2012, PloS one.

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

E. Zackai, N. Spinner, K. Woodward, 2000, American journal of human genetics.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

J. Rosenfeld, B. D. de Vries, E. Zackai, 2016, American journal of human genetics.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.

E. Zackai, E. Jabs, F. Ramos, 1993, American journal of medical genetics.

Genetic counseling for the 22q11.2 deletion.

E. Zackai, D. McDonald-McGinn, 2008, Developmental disabilities research reviews.

Cerebellar atrophy in a patient with velocardiofacial syndrome.

E. Zackai, K. Fischbeck, B. Emanuel, 1995, Journal of medical genetics.

Cleft Lip and Palate Repair in Hay-Wells/Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome

E. Zackai, D. McDonald-McGinn, R. Kirschner, 2007, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome

E. Zackai, A. Bassett, N. Butcher, 2018, American journal of medical genetics. Part A.

Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature

E. Zackai, D. Licht, E. Marsh, 2021, American journal of medical genetics. Part A.

Unusual craniofacial dysmorphia due to prenatal alcohol and cocaine exposure.

E. Zackai, N. Robin, 1994, Teratology.

Increased T‐cell counts in patients with 22q11.2 deletion syndrome who have anxiety

E. Zackai, R. Gur, K. Sullivan, 2020, American journal of medical genetics. Part A.

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome.

E. Zackai, K. Sullivan, D. McDonald-McGinn, 2004, Blood.

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

C. Romano, E. Zackai, A. Battaglia, 2008, Pediatrics.

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

E. Zackai, H. Hakonarson, A. Ganguly, 2020, Genetics in Medicine.

Genetics of Common Congenital Syndromes of the Head and Neck

E. Zackai, D. McDonald-McGinn, T. Wenger, 2014 .

Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.

E. Zackai, D. Gutmann, B. Emanuel, 1991, American journal of medical genetics.

Syndrome/Velocardiofacial Syndrome) Syndrome (DiGeorge Life in Chromosome 22q11.2 Deletion Function and Numbers in the First Year of Longitudinal Analysis of Lymphocyte

E. Zackai, B. Emanuel, 2013 .

Nonimmunologic Phenotypic Features Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and

E. Zackai, S. Bale, K. Sullivan, 2012 .

CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features

E. Zackai, S. Bale, K. Sullivan, 2009, Pediatrics.

Phenotypic Features Chromosome 22 q 11 . 2 Deletion Syndrome : A Comparison of Immunologic and Development , Genital Hypoplasia

E. Zackai, S. Bale, D. McDonald-McGinn, 2009 .

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

E. Zackai, A. Jawad, K. Sullivan, 2001, The Journal of pediatrics.

Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

E. Zackai, K. Sullivan, B. Emanuel, 1998, Clinical Diagnostic Laboratory Immunology.

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

Eli J. Cornblath, E. Zackai, R. Gur, 2021, Molecular Psychiatry.

Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age.

E. Zackai, E. Goldmuntz, D. McElhinney, 2001, Pediatrics.

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

M M Cohen, N H Robin, V Proud, 1997, Human molecular genetics.

Additional EFNB1 mutations in craniofrontonasal syndrome

E. Zackai, I. Kaitila, J. Mulliken, 2008, American journal of medical genetics. Part A.

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

E. Zackai, S. Twigg, A. Wilkie, 2002, American journal of human genetics.

CRANIOSYNOSTOSIS SYNDROMES

E. Zackai, E. Bhoj, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

Chapter 17. Craniosynostosis Syndromes

E. Zackai, K. Gripp, 2010 .

Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome

E. Zackai, T. Aleman, G. Binenbaum, 2018, Ophthalmic genetics.

Two Primary Osteosarcomas in a Patient With Rothmund-Thomson Syndrome

E. Zackai, N. Spinner, J. Silber, 2000, Clinical orthopaedics and related research.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2012, American journal of medical genetics. Part A.

Parathyroid hormone reserve in 22q11.2 deletion syndrome

E. Zackai, D. McDonald-McGinn, Chirag R. Kapadia, 2008, Genetics in Medicine.

The microdeletion syndromes

E. Zackai, J. Hoffman, 2005 .

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

E. Zackai, N. Spinner, R. Deberardinis, 2005, American journal of medical genetics. Part A.

Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.

E. Zackai, B. Clark, B. Emanuel, 1997, Pediatrics.

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

E. Zackai, B. Emanuel, D. McDonald-McGinn, 1996, American journal of medical genetics.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

E. Zackai, R. Gur, K. Sullivan, 2018, American journal of medical genetics. Part A.

Congenital diaphragmatic hernia in 22q11.2 deletion syndrome

E. Zackai, M. Nance, D. McDonald-McGinn, 2017, American journal of medical genetics. Part A.

A Prospective Study of Influenza Vaccination and a Comparison of Immunologic Parameters in Children and Adults with Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

E. Zackai, A. Jawad, K. Sullivan, 2011, Journal of Clinical Immunology.

Genitourinary malformations in chromosome 22q11.2 deletion.

E. Zackai, D. Canning, D. McDonald-McGinn, 2002, The Journal of urology.

White matter microstructural deficits in 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2017, Psychiatry Research: Neuroimaging.

CBX1 variants cause a neurodevelopmental syndrome due to facultative heterochromatin dysfunction

E. Zackai, S. Grant, T. Roscioli, 2020 .

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.

Dmitry Isaev, Kosha Ruparel, Eileen Daly, 2020, The American journal of psychiatry.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

E. Zackai, R. Gur, D. Heine-Suñer, 2018, American journal of medical genetics. Part A.

Disruption of the blood-brain barrier in 22q11.2 deletion syndrome.

E. Zackai, Angela N. Viaene, S. Anderson, 2021, Brain : a journal of neurology.

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

Eli J. Cornblath, E. Zackai, D. Bassett, 2020, Biological Psychiatry.

Wilms tumor in an 11‐year‐old with hemihyperplasia

E. Zackai, R. Weksberg, K. Gripp, 2005, American journal of medical genetics. Part A.

Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery.

E. Zackai, G. Jarvik, J. Gaynor, 2009, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

E. Zackai, H. Hakonarson, Y. Barash, 2019, American journal of human genetics.

Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot.

E. Zackai, G. Jarvik, S. Nicolson, 2008, The Journal of thoracic and cardiovascular surgery.

Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome

James C. Gee, Tony J. Simon, Donna M. McDonald-McGinn, 2007, Brain Research.

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

E. Zackai, K. Gripp, W. Dobyns, 2013, American journal of medical genetics. Part A.

The fetal trimethadione syndrome.

E. Zackai, J. Hanson, W. Mellman, 1975, The Journal of pediatrics.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Frequency of 22q11 deletions in patients with conotruncal defects.

E. Zackai, B. Clark, A. Jawad, 1998, Journal of the American College of Cardiology.

Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies

E. Zackai, E. Goldmuntz, D. McDonald-McGinn, 2021, Pediatric Cardiology.

Aortic root dilation in patients with 22q11.2 deletion syndrome

E. Zackai, E. Goldmuntz, D. McDonald-McGinn, 2009, American journal of medical genetics. Part A.

Jagged1 mutations in patients ascertained with isolated congenital heart defects.

E. Zackai, I. Krantz, N. Spinner, 1999, American journal of medical genetics.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

A J Agopian, E. Zackai, M. Owen, 2019, American journal of human genetics.

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

E. Zackai, R. Ganetzky, M. Simpson, 2015, Molecular genetics & genomic medicine.

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

E. Zackai, L. Schieve, J. Hoover-Fong, 2019, Journal of Autism and Developmental Disorders.

Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere.

E. Zackai, N. Spinner, C. Shields, 2001, American journal of medical genetics.

Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994.

E. Zackai, A. Cnaan, P. Phillips, 1997, The Journal of pediatrics.

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata

E. Zackai, J. Allanson, L. Medne, 2008, American journal of medical genetics. Part A.

Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome

Sunny X. Tang, E. Zackai, R. Gur, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A 781‐kb deletion of 13q12.3 in a patient with Peters plus syndrome

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2009, American journal of medical genetics. Part A.

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

E. Zackai, B. Emanuel, M. Budarf, 1993, Journal of medical genetics.

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit

E. Zackai, M. Deardorff, E. Goldmuntz, 2016, American journal of medical genetics. Part A.

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage

E. Zackai, N. Spinner, T. Shaikh, 2005, American journal of medical genetics. Part A.

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome

E. Zackai, B. Weber, J. Greshock, 2005, Journal of Medical Genetics.

Brainstem tumors in patients with neurofibromatosis type 1

E. Zackai, G. Liu, L. Bilaniuk, 1995, Neurology.

Clinical variability of TUBB‐associated disorders: Diagnosis through reanalysis

E. Zackai, Dong Li, E. Bhoj, 2020, American journal of medical genetics. Part A.

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

E. Zackai, P. Lapunzina, K. Gripp, 2006, American journal of medical genetics. Part A.

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.

E. Zackai, H. Moser, A. Moser, 1986, American journal of medical genetics.

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

E. Zackai, B. Emanuel, R. Packer, 1989, American journal of medical genetics.

Toriello–Carey syndrome: Delineation and review

Marc S. Williams, E. Zackai, W. Newman, 2003, American journal of medical genetics. Part A.

Imaging studies in a unique familial dysmyelinating disorder.

E. Zackai, R. Zimmerman, L. Rorke, 1998, AJNR. American journal of neuroradiology.

A Case of Prenatally Diagnosed Periventricular Nodular Heterotopia in a Surviving Male Patient with FLNA Mutation

E. Zackai, I. Campbell, D. Zarnow, 2021, Journal of Pediatric Neurology.

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

E. Zackai, S. Robertson, J. Graham, 2012, European Journal of Human Genetics.

Congenital heart defects in oculodentodigital dysplasia: Report of two cases

E. Zackai, A. Wilkens, D. McDonald-McGinn, 2013, American journal of medical genetics. Part A.

Holt‐Oram syndrome associated with the hypoplastic left heart syndrome

E. Zackai, P. Weinberg, T. Glauser, 1989, Clinical genetics.

Cytogenetic and Molecular Characterization of Inverted Duplicated Chromosomes 1 5 from I I Patients

E. Zackai, N. Spinner, J. Knoll, 2007 .

CD4+ CD25+ T-Cell Production in Healthy Humans and in Patients with Thymic Hypoplasia

E. Zackai, K. Sullivan, D. McDonald-McGinn, 2002, Clinical and Vaccine Immunology.

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum

E. Zackai, N. Spinner, L. Conlin, 2010, American journal of medical genetics. Part A.

Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

J. Rosenfeld, E. Zackai, M. Parker, 2011, Journal of Medical Genetics.

Townes‐Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

E. Zackai, V. Shashi, F. Elmslie, 2007, Human mutation.

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

E. Zackai, H. Hakonarson, D. Slater, 2021, American journal of medical genetics. Part A.

Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

E. Zackai, N. Spinner, S. Saitta, 2013, American journal of medical genetics. Part A.

DELETION 22q11.2 (VELO‐CARDIO‐FACIAL SYNDROME/DIGEORGE SYNDROME)

E. Zackai, D. McDonald-McGinn, Taisa J Kohut, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review

E. Zackai, D. McDonald-McGinn, F. Pameijer, 2018, American Journal of Neuroradiology.

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

E. Zackai, B. Emanuel, M. Budarf, 2001, Journal of medical genetics.

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?

E. Zackai, R. Markowitz, D. McDonald-McGinn, 1997, American journal of medical genetics.

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

E. Zackai, J. Ganesh, S. Saitta, 2018, American journal of medical genetics. Part A.

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Adam C Gunning, E. Zackai, H. Hakonarson, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

E. Zackai, G. Matherne, J. Krier, 2016, American journal of medical genetics. Part A.

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

Zhe Zhang, Ryuichiro Nakato, Matthew C Dulik, 2015, Nature Genetics.

Prevalence of 22 q 1 1 microdeletions in DiGeorge and velocardiofacial syndromes : implications for genetic counselling and prenatal diagnosis

E. Zackai, B. Emanuel, M. Budarf, 2022 .

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

E. Zackai, B. Emanuel, D. Driscoll, 2001, Genetics in Medicine.

Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion.

E. Zackai, M. Fogel, E. Goldmuntz, 2005, The American journal of cardiology.

with or without aortic arch obstruction Neurodevelopmental outcome after early repair of a ventricular septal defect

E. Zackai, G. Jarvik, S. Nicolson, 2013 .

Neurodevelopmental Outcomes After Staged Palliation for Hypoplastic Left Heart Syndrome

E. Zackai, G. Jarvik, S. Nicolson, 2008, Pediatrics.

Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstruction.

E. Zackai, G. Jarvik, S. Nicolson, 2006, The Journal of thoracic and cardiovascular surgery.

Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery.

Gil Wernovsky, Gail P Jarvik, Elaine Zackai, 2007, The Journal of thoracic and cardiovascular surgery.

Myoclonus in a patient with a deletion of the ε‐sarcoglycan locus on chromosome 7q21

E. Zackai, R. Deberardinis, B. Emanuel, 2003 .

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing

E. Zackai, Minjie Luo, K. Cao, 2016, Genetics in Medicine.

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

E. Zackai, H. Hakonarson, L. Conlin, 2022, Molecular cytogenetics.

Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2

E. Zackai, B. Dallapiccola, C. Heike, 2009, American journal of medical genetics. Part A.

Crane‐Heise syndrome: A second familial case report with elaboration of phenotype

E. Zackai, L. Medne, Brendan H. Lee, 2003, American journal of medical genetics. Part A.

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

E. Zackai, W. Tasman, D. McDonald-McGinn, 1996, Journal of medical genetics.

Molecular analysis of congenital scoliosis: a candidate gene approach

E. Zackai, K. Kusumi, J. Dormans, 2005, Human Genetics.

Congenital Scoliosis and Vertebral Malformations: Characterization of Segmental Defects for Genetic Analysis

E. Zackai, K. Kusumi, P. Turnpenny, 2004, Journal of pediatric orthopedics.

A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome.

E. Zackai, R. Gur, R. Gur, 2021, Journal of psychiatric research.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Neurologic challenges in 22q11.2 deletion syndrome

E. Zackai, L. Bilaniuk, D. McDonald-McGinn, 2018, American journal of medical genetics. Part A.

Nasal dimple as part of the 22q11.2 deletion syndrome.

E. Zackai, B. Emanuel, K. Gripp, 1997, American journal of medical genetics.

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.

E. Zackai, R. Markowitz, B. Clark, 1997, Genetic testing.

Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes.

E. Zackai, B. Emanuel, D. Driscoll, 1993, Progress in clinical and biological research.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

Stephanie E. Vallee, E. Zackai, A. Battaglia, 2019, American journal of medical genetics. Part A.

Immune abnormalities are a frequent manifestation of Kabuki syndrome

E. Zackai, P. Kaplan, K. Sullivan, 2005, American journal of medical genetics. Part A.

Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q.

E. Zackai, N. Spinner, R. Schnur, 1993, Journal of the American Academy of Dermatology.

Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

E. Zackai, B. Emanuel, S. H. Tucker, 1983, Journal of medical genetics.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in Medicine.

Physical mapping of the holoprosencephaly critical region in 18p11.3.

E. Zackai, M. Muenke, J. Overhauser, 1995, American journal of human genetics.

Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

E. Zackai, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

E. Zackai, N. Spinner, S. Schuffenhauer, 1993, Journal of medical genetics.

IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS

E. Zackai, R. Gur, M. Devoto, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome

E. Zackai, J. Fish, R. Person, 2017, Clinical genetics.

Genotype and Phenotype in 12 additional individuals with SATB 2-Associated Syndrome

E. Zackai, J. Fish, R. Person, 2017 .

A pragmatic approach to the radiologic diagnosis of pediatric syndromes and skeletal dysplasias.

E. Zackai, R. Markowitz, 2001, Radiologic clinics of North America.

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

E. Zackai, D. Prockop, D. McDonald-McGinn, 1993, American journal of human genetics.

Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases

E. Zackai, L. Medne, S. Purandare, 2009, American journal of medical genetics. Part A.

Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

E. Zackai, J. Clayton-Smith, R. Scott, 2016, American journal of medical genetics. Part A.

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

L. Shaffer, E. Zackai, S. Christian, 2008, American journal of medical genetics. Part A.

Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

E. Zackai, J. Kingdom, D. Chitayat, 2008, American journal of medical genetics. Part A.

Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.

E. Zackai, N. Spinner, D. McDonald-McGinn, 1995, American journal of medical genetics.

Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.

E. Zackai, R. Deberardinis, B. Emanuel, 2003, American journal of medical genetics. Part A.

Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.

E. Zackai, R. Gur, R. Gur, 2020, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Neurodevelopmental outcomes in preschool survivors of the Fontan procedure.

E. Zackai, S. Nicolson, T. Spray, 2014, The Journal of thoracic and cardiovascular surgery.

Further delineation of cardiac abnormalities in Costello syndrome.

E. Zackai, R. Weksberg, B. Marino, 2002, American journal of medical genetics.

Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

E. Zackai, K. Sullivan, E. L. Luning Prak, 2010, Clinical immunology.

Polytopic anomalies with agenesis of the lower vertebral column.

E. Zackai, J. Opitz, S. Mundlos, 1999, American journal of medical genetics.

Analysis of clinical variation seen in patients with 18q terminal deletions.

E. Zackai, J. Kamholz, G. Strathdee, 1995, American journal of medical genetics.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

E. Zackai, M. Patton, A. Shaw, 2002, Human Genetics.

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency

E. Zackai, K. Sullivan, D. McDonald-McGinn, 2017, Journal of Clinical Immunology.

The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias

E. Zackai, D. McDonald-McGinn, M. Lambert, 2018, American journal of medical genetics. Part A.

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

E. Zackai, K. Sullivan, H. Hoyme, 2006, American journal of medical genetics. Part A.

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies

E. Zackai, N. Spinner, C. Venditti, 2004, American journal of medical genetics. Part A.

De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.

E. Zackai, B. Emanuel, A. Donnenfeld, 1987, Journal of medical genetics.

A catalog of hemizygous variation in 127 22q11 deletion patients

E. Zackai, R. Gur, S. Warren, 2016, Human Genome Variation.

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

L. Shaffer, E. Zackai, B. Ballif, 2008, Clinical genetics.

Muenke Syndrome ( FGFR 3-Related Craniosynostosis ) : Expansion of the Phenotype and Review of the Literature

E. Zackai, C. Brewer, B. Solomon, 2007 .

Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.

E. Zackai, D. McDonald-McGinn, T. Young, 2006, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Clinical and molecular diagnosis should be consistent

E. Zackai, K. Gripp, M. Cohen, 2003, American journal of medical genetics. Part A.

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis

E. Zackai, S. Bartlett, B. Emanuel, 2001, Genetics in Medicine.

The Changing Epidemiologic Spectrum of Single-Suture Synostoses

E. Zackai, S. Sonnad, S. Bartlett, 2008, Plastic and reconstructive surgery.

Atypical Williams syndrome in an infant with complete atrioventricular canal defect

E. Zackai, P. Kaplan, R. Ahrens-Nicklas, 2015, American journal of medical genetics. Part A.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation

E. Zackai, K. Sullivan, M. Khokha, 2018, Front. Immunol..

Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals

E. Zackai, J. Clayton-Smith, D. Stevenson, 2004, American journal of medical genetics. Part A.

Cystic kidney disease in Hajdu-Cheney syndrome.

E. Zackai, P. Kaplan, F. Ramos, 1995, American journal of medical genetics.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

E. Zackai, I. Krantz, C. Stanley, 2019, American journal of medical genetics. Part A.

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

E. Zackai, K. Sullivan, A. Bassett, 2018, European journal of medical genetics.

Tatton‐Brown‐Rahman syndrome: Six individuals with novel features

E. Zackai, G. Wertheim, J. Maris, 2020, American journal of medical genetics. Part A.

A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.

E. Zackai, C. Stolle, 1998, American journal of human genetics.

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

E. Zackai, M. Harr, B. Keena, 2017, European journal of medical genetics.

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

J. Rosenfeld, R. Tervo, B. Torchia, 2011, Molecular Syndromology.

Congenital heart disease in supernumerary der(22), t(11;22) syndrome

E. Zackai, B. Emanuel, A. Lin, 1986, Clinical genetics.

The diagnosis of neurofibromatosis-1 in the child under the age of 6 years.

E. Zackai, A. Meadows, A. C. Obringer, 1989, American journal of diseases of children.

Erratum: Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation( Pediatrics (2008) 121 (404-410))

C. Romano, E. Zackai, H. Hoyme, 2008 .

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

E. Zackai, T. Shaikh, K. Artinger, 2015, Human molecular genetics.

Symptomatic Chiari I malformation in Kabuki syndrome

E. Zackai, J. Clayton-Smith, R. Zimmerman, 2005, American journal of medical genetics. Part A.

Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities.

E. Zackai, L. Whitaker, R. Schnur, 1988, American journal of medical genetics. Supplement.

Cardiac evaluation of patients with 22q11.2 duplication syndrome

E. Zackai, E. Goldmuntz, D. McDonald-McGinn, 2020, American journal of medical genetics. Part A.

6 – Human Peripheral Blood Leukocyte Cultures

E. Zackai, W. Mellman, 1974 .

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes

E. Zackai, R. Pyeritz, S. Furth, 2021, American journal of medical genetics. Part A.

CRANIOSYNOSTOSIS SYNDROMES

E. Zackai, E. Bhoj, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

The Natural History of Patients Treated for TWIST1-Confirmed Saethre-Chotzen Syndrome

E. Zackai, S. Bartlett, L. Whitaker, 2009, Plastic and reconstructive surgery.

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.

E. Zackai, K. Gripp, L. Whitaker, 1999, American journal of medical genetics.

Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly‐capillary malformation syndrome

E. Zackai, J. Rivière, W. Dobyns, 2013, Prenatal diagnosis.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Jamie K Teer, Shlomo Wientroub, Leslie G Biesecker, 2011, The New England journal of medicine.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated

Sunny X. Tang, E. Zackai, R. Gur, 2013, Psychological Medicine.

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome

E. Zackai, J. Lupski, S. Jhangiani, 2020, American journal of medical genetics. Part A.

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion

E. Zackai, K. Fischbeck, B. Emanuel, 1991, Annals of neurology.

Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies

E. Zackai, N. Spinner, Minjie Luo, 2015, American journal of medical genetics. Part A.

Down syndrome congenital heart disease: A narrowed region and a candidate gene

E. Zackai, N. Spinner, G. Lyons, 2001, Genetics in Medicine.

Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.

E. Zackai, N. Spinner, J. Knoll, 1995, American journal of medical genetics.

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes : Robust Phenotype Prediction from the Type and Position of GLI 3 Mutations

E. Zackai, L. Biesecker, J. Graham, 2005 .

Asymmetric Crying Facies in the 22q11.2 Deletion Syndrome

E. Zackai, D. McDonald-McGinn, Oksana A. Jackson, 2013, Clinical pediatrics.

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

E. Zackai, N. Spinner, R. Spritz, 1994, Human molecular genetics.

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome.

E. Zackai, E. Goldmuntz, D. McElhinney, 2002, American journal of medical genetics.

46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization.

E. Zackai, N. Spinner, J. Biegel, 1993, American journal of medical genetics.

Prevalence of 22q1 1 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

E. Zackai, M. Budarf, D. Driscoll, 2022 .

Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome.

E. Zackai, D. McDonald-McGinn, R. Weller, 2009, Journal of affective disorders.

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

E. Zackai, L. Schieve, J. Hoover-Fong, 2019, Journal of Autism and Developmental Disorders.

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

E. Zackai, B. Morrow, B. Emanuel, 2018, Human molecular genetics.

Ocular findings associated with chromosome 22q11.2 duplication.

E. Zackai, G. Binenbaum, D. McDonald-McGinn, 2016, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype

E. Zackai, S. Brooks, K. Izumi, 2012, American journal of medical genetics. Part A.

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

E. Zackai, B. Emanuel, R. Kelley, 1982, The Journal of pediatrics.

Arthritis associated with deletion of 22q11.2: more common than previously suspected.

E. Zackai, K. Sullivan, D. McDonald-McGinn, 1997, American journal of medical genetics.

CBX1 mutations cause a neurodevelopmental syndrome due to heterochromatin organizational alterations

E. Zackai, S. Grant, T. Roscioli, 2020 .

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies

E. Zackai, A. Lin, A. Santani, 2021, American journal of medical genetics. Part A.

Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome

E. Zackai, M. Ferguson-Smith, M. Muenke, 2003, European Journal of Human Genetics.

Duplication 3q syndrome: molecular delineation of the critical region.

L. Shaffer, E. Zackai, A. Baldini, 1995, American journal of medical genetics.

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

E. Zackai, J. Carey, R. Mewar, 1994, American journal of human genetics.

E. Zackai, I. Krantz, M. Deardorff, 2020, American journal of medical genetics. Part A.

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Renzo Guerrini, William B Dobyns, Dawn Earl, 2006, American journal of medical genetics. Part A.

The 22q11.2 deletion in African‐American patients: An underdiagnosed population?

E. Zackai, A. Jawad, B. Emanuel, 2005, American journal of medical genetics. Part A.

Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.

E. Zackai, B. Emanuel, S. Weinzimer, 1998, Pediatrics.

Skeletal anomalies and deformities in patients with deletions of 22q11.

E. Zackai, R. Markowitz, B. Emanuel, 1997, American journal of medical genetics.

What's in a name? The 22q11.2 deletion.

E. Zackai, D. McDonald-McGinn, D. Low, 1997, American journal of medical genetics.

Classical Noonan syndrome is not associated with deletions of 22q11.

E. Zackai, B. Emanuel, D. Driscoll, 1995, American journal of medical genetics.

Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

E. Zackai, K. Sullivan, D. McDonald-McGinn, 2003, Pediatrics.

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

E. Zackai, J. Biegel, B. Emanuel, 1993, Journal of medical genetics.

High cesarean section rate in trisomy 18 births: a potential indication for late prenatal diagnosis.

E. Zackai, A. Schneider, M. Mennuti, 1981, American journal of obstetrics and gynecology.

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

E. Zackai, R. Weksberg, J. Squire, 2006, American journal of medical genetics. Part A.

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

E. Zackai, J. Massagué, K. Gripp, 2000, Nature Genetics.

Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies.

E. Zackai, H. Harris, R. Mulivor, 1978, American journal of human genetics.

Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics

Courtney A. Durdle, E. Zackai, M. Owen, 2021, Cerebral cortex.

Regional Brain Abnormalities in 22q11.2 Deletion Syndrome: Association With Cognitive Abilities and Behavioral Symptoms

Tyrone D. Cannon, Nicole M. Hill, E. Zackai, 2004, Neurocase.

International Standing Committee on Human Cytogenetic Nomenclature

Y. Rumpler, Uta Francke, Elaine H. Zackai, 1976 .

Melorheostosis: Segmental Osteopoikilosis or a Separate Entity?

E. Zackai, M. Deardorff, H. Dubbs, 2015, Journal of pediatric orthopedics.

Autosomal dominant inheritance of infantile myofibromatosis

E. Zackai, S. Saitta, D. McDonald-McGinn, 2004, American journal of medical genetics. Part A.

Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression.

E. Zackai, C. Langston, M. Harris, 1994, The Journal of pediatrics.

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

J. Rosenfeld, E. Zackai, R. Desnick, 2015, American journal of medical genetics. Part A.

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

E. Zackai, B. Harding, J. Graham, 2007, American journal of medical genetics. Part A.

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

E. Zackai, R. Markowitz, S. Bartlett, 1998, American journal of medical genetics.

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.

E. Zackai, A. Zinn, M. Mazzocco, 2006, Journal of pediatric psychology.

Metatropic dwarfism. Uncoupling of endochondral and perichondral growth.

E. Zackai, S. Boden, M. Fallon, 1987, The Journal of bone and joint surgery. American volume.

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

E. Zackai, K. Coleman, G. Binenbaum, 2008, American journal of medical genetics. Part A.

Ocular findings in the chromosome 22q11.2 deletion syndrome.

E. Zackai, G. Binenbaum, D. McDonald-McGinn, 2007, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly

E. Zackai, O. Abdul-Rahman, J. Kalish, 2019, Clinical genetics.

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses

E. Zackai, R. Ganetzky, G. B. Schaefer, 2015, American journal of medical genetics. Part A.

Childhood neurofibromatosis: risk factors for malignant disease.

E. Zackai, A. Meadows, A. C. Obringer, 1986, Cancer genetics and cytogenetics.

Revision of “A 223-kb De Novo Deletion of PAX9 in a Patient With Oligodontia”

E. Zackai, C. Haldeman-Englert, J. Ming, 2012, The Journal of craniofacial surgery.

Ring chromosome 7 with variable phenotypic expression.

E. Zackai, W. R. Breg, 1973, Cytogenetics and cell genetics.

Deletions of different segments of the long arm of chromosome 4.

E. Zackai, J. Opitz, S. Packman, 1981, American journal of medical genetics.

Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?

E. Zackai, B. Emanuel, R. Schnur, 1992, American journal of medical genetics.

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.

E. Zackai, N. Spinner, K. Hirschhorn, 1997, Human molecular genetics.

Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia.

E. Zackai, K. Gripp, D. McDonald-McGinn, 2001, American journal of medical genetics.

New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma.

N H Robin, E. Zackai, D. McDonald-McGinn, 1993, American journal of medical genetics.

A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies. Respository identification No. GM-981.

E. Zackai, B. Emanuel, A. Greene, 1978, Cytogenetics and cell genetics.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

E. Zackai, E. Bermejo, B. Weschke, 2003, Journal of medical genetics.

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

E. Zackai, N. Spinner, R. Shprintzen, 1992, American journal of medical genetics.

The role of cytologic NOR variants in the etiology of trisomy 21.

E. Zackai, N. Spinner, B. Emanuel, 1989, American journal of human genetics.

Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.

E. Zackai, I. Krantz, B. Devkota, 2022, The Journal of pediatrics.

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

B. Roe, E. Zackai, T. Shaikh, 2000, Human molecular genetics.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

Mutations within the spliceosomal gene SNRPB affect its auto‐regulation and are causative for classic cerebro‐costo‐mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2015, Clinical genetics.

Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients

E. Zackai, H. Hakonarson, C. Hou, 2021, American journal of medical genetics. Part A.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Michael F. Wangler, E. Zackai, J. Lupski, 2014, American journal of human genetics.

An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B

E. Zackai, T. Shaikh, L. Medne, 2014, American journal of medical genetics. Part A.

Non-immune hydrops fetalis associated with impaired fetal movement: a case report and review.

E. Zackai, L. Rorke, N. Robin, 1994, American journal of medical genetics.

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

Stephan Eliez, Abraham Weizman, Wanda Fremont, 2014, The American journal of psychiatry.

Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion

E. Zackai, D. McDonald-McGinn, E. Moss, 2001, Genetics in Medicine.

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

Deborah L. Levy, Gregory M. Cooper, Brian L. Browning, 2010, Nature Genetics.

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

Courtney A. Durdle, Dan J Stein, Thomas W. Mühleisen, 2021, Human brain mapping.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers

E. Zackai, M. Digilio, J. Gaynor, 2018, American journal of medical genetics. Part A.

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.

Jonathan H. Chung, E. Zackai, K. Coleman, 2015, American journal of human genetics.

The 22q11.2 deletion syndrome.

E. Zackai, N. Philip, B. Emanuel, 2001, Advances in pediatrics.

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

E. Zackai, T. Shaikh, B. Emanuel, 1999, American journal of human genetics.

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching.

E. Zackai, P. Weinberg, B. Clark, 2001, Journal of the American College of Cardiology.

Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.

E. Zackai, S. Zderic, K. Gripp, 1999, American journal of medical genetics.

Neuropsychiatry of 18q- syndrome.

B. Turetsky, E. Zackai, P. Moberg, 1996, American journal of medical genetics.

Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain.

E. Zackai, R. Zimmerman, L. Rorke, 1995, Radiology.

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

E. Zackai, B. Chung, J. Mullikin, 2015, Molecular genetics & genomic medicine.

Amniotic Band Sequence

E. Zackai, S. Purandare, 2005 .

Human malformations similar to those in the mouse mutation disorganization (Ds)

E. Zackai, M. Bucan, J. Nadeau, 1993, Human Genetics.

Early ultrasound diagnosis of Neu–Laxova syndrome

E. Zackai, D. Driscoll, M. Rode, 2001, Prenatal diagnosis.

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

William W. Cohen, L. Shaffer, E. Zackai, 2009, Human molecular genetics.

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

E. Zackai, T. Shaikh, E. Rappaport, 2006, Human mutation.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Emily K. Mis, E. Zackai, D. Baralle, 2019, bioRxiv.

Expanding the reproductive organ phenotype of CHD7‐spectrum disorder

E. Zackai, I. Krantz, C. Skraban, 2023, American journal of medical genetics. Part A.

A 223-kb De Novo Deletion of PAX9 in a Patient With Oligodontia

E. Zackai, C. Haldeman-Englert, J. Ming, 2010, The Journal of craniofacial surgery.

Constitutional 1p36 deletion in a child with neuroblastoma.

E. Zackai, J. Biegel, B. Emanuel, 1993, American journal of human genetics.

Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families.

E. Zackai, B. Emanuel, J. Gorski, 1988, American journal of medical genetics.

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

E. Zackai, N. Spinner, J. Knoll, 1994, American journal of human genetics.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)

E. Zackai, A. Jawad, K. Sullivan, 1998 .

Craniosynostosis: Another feature of the 22q11.2 deletion syndrome

E. Zackai, K. Gripp, L. Whitaker, 2005, American journal of medical genetics. Part A.

Diaphragmatic hernia in tetrasomy 12p mosaicism.

E. Zackai, E. Ruchelli, J. Bergoffen, 1993, The Journal of pediatrics.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

A. Auton, T. Werge, E. Zackai, 2013, American journal of human genetics.

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome

E. Zackai, D. McDonald-McGinn, Daniel E. McGinn, 2022, Genes.

Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)

Deanne M. Taylor, E. Zackai, M. Xiao, 2020, Scientific Reports.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

E. Zackai, C. Marshall, D. Zheng, 2018, Human molecular genetics.

Pediatric healthcare costs for patients with 22q11.2 deletion syndrome

Evanette K. Burrows, E. Zackai, K. Sullivan, 2017, Molecular genetics & genomic medicine.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Craig S. Wong, E. Zackai, H. Hakonarson, 2017, The New England journal of medicine.

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts

E. Zackai, R. Gur, R. Gur, 2016, Brain and Cognition.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome

David R. Roalf, Kosha Ruparel, Ruben C. Gur, 2015, Biological Psychiatry.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Jonathan H. Chung, E. Zackai, B. Morrow, 2015, American journal of human genetics.

Incidental Radiologic Findings in the 22q11.2 Deletion Syndrome

E. Zackai, R. Gur, R. Gur, 2014, American Journal of Neuroradiology.

Hemizygous mutations in SNAP 29 unmask autosomal recessive conditions and contribute to atypical fi ndings in patients with 22 q 11 . 2 DS

E. Zackai, S. Warren, J. Vermeesch, 2013 .

Velo-Cardio-Facial Syndrome: Genetic counseling

E. Zackai, D. McDonald-McGinn, 2005 .

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

E. Zackai, B. Emanuel, S. Saitta, 2004, Human molecular genetics.

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome

E. Zackai, S. Saitta, D. Driscoll, 2004, American journal of medical genetics. Part A.

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

E. Zackai, T. Shaikh, B. Emanuel, 2000, American journal of human genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

E. Zackai, T. Shaikh, B. Emanuel, 1999, American journal of human genetics.

Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

B. Roe, E. Zackai, A. Hua, 1997, Human molecular genetics.

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction.

E. Zackai, B. Emanuel, Beverly S. Emanuel, 1980, American journal of medical genetics.

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.

E. Zackai, K. Gripp, Marilyn C. Jones, 2002, American journal of medical genetics.

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders

E. Zackai, C. Stevens, F. Brancati, 2013, American journal of medical genetics. Part A.

Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba‐oculo‐tricho‐anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome

E. Zackai, J. Hurst, A. Slavotinek, 2013, American journal of medical genetics. Part A.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2011, Human mutation.

Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.

E. Zackai, R. Kelley, E. Charney, 1982, The Journal of pediatrics.

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

E. Zackai, M. Budarf, D. Driscoll, 1995, Human molecular genetics.

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Tomas W. Fitzgerald, D. J. Driscoll, N. Carter, 2009, American journal of human genetics.

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

R. Tervo, L. Shaffer, E. Zackai, 2008, Molecular Cytogenetics.

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Lorraine Potocki, Pawel Stankiewicz, Weimin Bi, 2007, American journal of human genetics.

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

John Wei, S. Scherer, E. Zackai, 2017, The American journal of psychiatry.

CMIP haploinsufficiency in two patients with autism spectrum disorder and co‐occurring gastrointestinal issues

Laura K Conlin, Minjie Luo, E. Zackai, 2017, American journal of medical genetics. Part A.

Specific Chromosome Disorders in Newborns

E. Zackai, C. Haldeman-Englert, S. Saitta, 2012 .

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Laura K Conlin, Livija Medne, Hakon Hakonarson, 2010, Human molecular genetics.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Timothy J. Edwards, Ryan J. Dean, H. Peeters, 2018, American journal of human genetics.

Identification of a Mutation in a GATA Binding Site of the Platelet Glycoprotein Ibβ Promoter Resulting in the Bernard-Soulier Syndrome*

Elaine H. Zackai, E. Zackai, M. Budarf, 1996, The Journal of Biological Chemistry.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

J. Rosenfeld, E. Zackai, L. Burrage, 2021, Molecular Autism.

Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR

E. Zackai, M. Meyn, L. Messiaen, 2011, American journal of medical genetics. Part A.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

J. Shendure, H. Mefford, E. Zackai, 2011, American journal of medical genetics. Part A.

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

S. Gabriel, E. Zackai, E. Nickerson, 2013, American journal of human genetics.

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

E. Zackai, K. Sullivan, B. Emanuel, 1999, Genetic counseling.

Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression

E. Zackai, R. Gur, B. Morrow, 2022, medRxiv.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

E. Zackai, M. Muenke, D. Viskochil, 1995, Human molecular genetics.

A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

E. Zackai, B. Forbes, L. Grunwald, 2010, Ophthalmic genetics.

The Natural History of Patients Treated for FGFR3-Associated (Muenke-Type) Craniosynostosis

E. Zackai, S. Bartlett, D. McDonald-McGinn, 2008, Plastic and reconstructive surgery.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

E. Zackai, M. Muenke, G. Bellus, 1996, Nature Genetics.

TO JMG Characterisation of deletions of the ZFHX 1 B region and genotype-phenotype analysis in Mowat-Wilson syndrome

E. Zackai, B. Weschke, I. Temple, 2003 .

Molecular Diagnostic Outcomes from 700 Cases

Michael A. Gonzalez, E. Zackai, I. Krantz, 2022, The Journal of molecular diagnostics : JMD.

E. Zackai, I. Helbig, G. Akgumus, 2018, Epilepsy Research.

Chromatin Modifications in 22q11.2 Deletion Syndrome

E. Zackai, K. Sullivan, Zhe Zhang, 2021, Journal of Clinical Immunology.

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

E. Zackai, K. Doheny, L. Bird, 2015, American journal of medical genetics. Part A.

Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array‐based CGH

E. Zackai, B. Weber, J. Hoffman, 2006, Clinical genetics.

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

E. Zackai, N. Niikawa, D. Driscoll, 1996, American journal of medical genetics.

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

E. Zackai, I. Krantz, N. Spinner, 2015, Genetics in Medicine.

Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia.

E. Zackai, M. DeBaun, L. Medne, 2003, The Journal of pediatrics.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

R. Pfundt, B. D. de Vries, E. Zackai, 2020, Genetics in Medicine.

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell–Silver syndrome

S. Scherer, E. Zackai, R. Weksberg, 2009, American journal of medical genetics. Part A.

Partial duplication 1q: report of four patients and review of the literature.

E. Zackai, S. Rasmussen, J. Frías, 1990, American journal of medical genetics.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Anna Lindstrand, Michael J Parker, Avni Santani, 2015, American journal of human genetics.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Xiaowu Gai, Laura K Conlin, Livija Medne, 2009, Genome research.

applications the human genome : A data resource for clinical and research High-resolution mapping and analysis of copy number variations in Material Supplemental

Joseph T. Glessner, Ryan M. Smith, E. Zackai, 2009 .

A de novo 8.8‐Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21

E. Zackai, N. Spinner, C. Haldeman-Englert, 2010, American journal of medical genetics. Part A.

Chapter 19 – Evaluation of the Dysmorphic Infant

E. Zackai, C. Haldeman-Englert, S. Saitta, 2005 .

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

U. Surti, L. Shaffer, E. Zackai, 2007, Nature Genetics.

Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.

E. Zackai, B. Clark, A. Jawad, 1999, American journal of medical genetics.

Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.

E. Zackai, B. Emanuel, F. Ramos, 1992, American journal of medical genetics.

Optic pathway and hypothalamic/chiasmatic gliomas in children younger than age 5 years with a 6‐year follow‐up

E. Zackai, A. Cnaan, B. Lange, 1995, Cancer.

Prenatal diagnosis of mosaicism 46, XX/46, XX, −21, +t(21q21q)

E. Zackai, M. Mennuti, B. Emanuel, 1984, Prenatal diagnosis.

Evaluation of Potential Modifiers of the Palatal Phenotype in the 22q11.2 Deletion Syndrome

E. Zackai, B. Emanuel, D. Driscoll, 2006, Birth defects research. Part A, Clinical and molecular teratology.

Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.

E. Zackai, B. Emanuel, D. Driscoll, 2006, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

Lateral meningocele syndrome: three new patients and review of the literature.

E. Zackai, A. Duhaime, S. Zderic, 1997, American journal of medical genetics.

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome

E. Zackai, D. Driscoll, D. McDonald-McGinn, 2007, American journal of medical genetics. Part A.

Metopic craniosynostosis due to mutations in GLI3: A novel association

E. Zackai, L. Whitaker, D. McDonald-McGinn, 2010, American journal of medical genetics. Part A.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister‐Hall syndrome

E. Zackai, N. Khalek, R. Zimmerman, 2015, American journal of medical genetics. Part A.

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism

E. Zackai, L. Biesecker, J. Johnston, 2014, American journal of medical genetics. Part A.

On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.

E. Zackai, L. Rorke, M. Muenke, 1991, American journal of medical genetics.

Metopic Craniosynostosis Syndrome Due to Mutations in GLI3

E. Zackai, D. McDonald-McGinn, H. Nah, 2011 .

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.

E. Zackai, K. Gripp, D. McDonald-McGinn, 1997, American journal of medical genetics.

Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome

E. Zackai, M. Deardorff, A. Santani, 2021, American journal of medical genetics. Part A.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Muenke syndrome: Medical and surgical comorbidities and long‐term management

E. Zackai, S. Bartlett, A. Santani, 2019, American journal of medical genetics. Part A.

Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

E. Zackai, C. Brewer, B. Solomon, 2007, American journal of medical genetics. Part A.

Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report

L A Whitaker, E. Zackai, K. Gripp, 2001, Plastic and reconstructive surgery.

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

E. Zackai, S. Bartlett, K. Gripp, 1998, The Journal of pediatrics.

Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

E. Zackai, E. Jabs, J. Heath, 1997, Human molecular genetics.

Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

E. Zackai, P. Kaplan, F. Ramos, 1998, American journal of medical genetics.

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

E. Zackai, P. Heagerty, G. Jarvik, 2010, The Journal of thoracic and cardiovascular surgery.

Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male

E. Zackai, L. Brown, M. Mennuti, 1988, Human Genetics.

Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.

E. Zackai, B. Emanuel, M. Münke, 1988, American journal of medical genetics.

Surgical Airway Management in Pierre Robin Sequence: Is There a Role for Tongue-Lip Adhesion?

E. Zackai, D. Low, S. Bartlett, 2003, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Chromosomal and cardiovascular anomalies associated with congenital laryngeal web.

E. Zackai, E. Goldmuntz, D. McElhinney, 2002, International journal of pediatric otorhinolaryngology.

Omodysplasia: an affected mother and son.

E. Zackai, C. Alter, D. Canning, 2002, American journal of medical genetics.

Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18.

E. Zackai, D. Chitayat, M. Warman, 1987, The Journal of pediatrics.

Genetic factors are important determinants of impaired growth after infant cardiac surgery.

E. Zackai, J. Gaynor, J. Bernbaum, 2010, The Journal of thoracic and cardiovascular surgery.

A 35-Year Experience With Syndromic Cleft Palate Repair: Operative Outcomes and Long-term Speech Function

E. Zackai, D. Low, D. McDonald-McGinn, 2014, Annals of plastic surgery.

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

E. Zackai, L. Hoefsloot, B. Emanuel, 2013, Molecular Syndromology.

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

E. Zackai, P. Kaplan, N. Spinner, 2010, American journal of medical genetics. Part A.

Paternal transmission of congenital myotonic dystrophy.

E. Zackai, K. Fischbeck, D. McDonald-McGinn, 1994, Journal of medical genetics.

Chapter 130 – Genetic Syndromes Caused by Chromosomal Abnormalities

E. Zackai, M. Deardorff, 2007 .

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

E. Zackai, J. Pinto-Martin, B. Emanuel, 2005, Journal of autism and developmental disorders.

Paternal origin of the de novo constitutional t(11;22)(q23;q11)

E. Zackai, L. Medne, B. Emanuel, 2010, European Journal of Human Genetics.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

E. Zackai, H. Hakonarson, W. Dobyns, 2020, American journal of medical genetics. Part A.

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

Deanne M. Taylor, E. Zackai, H. Hakonarson, 2019, Birth defects research.

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.

E. Zackai, N. Spinner, P. Fortina, 2000, American journal of medical genetics.

A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children

Joel P. Bish, E. Zackai, J. Gee, 2005, Development and Psychopathology.

Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome

E. Zackai, C. Bearden, A. Jawad, 2005, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.

E. Zackai, A. Jawad, K. Sullivan, 1998, Clinical immunology and immunopathology.

Increasing cumulative exposure to volatile anesthetic agents is associated with poorer neurodevelopmental outcomes in children with hypoplastic left heart syndrome.

Jeffrey W. Pennington, E. Zackai, S. Nicolson, 2016, The Journal of thoracic and cardiovascular surgery.

Surgical insights and management in patients with the 22q11.2 deletion syndrome

Evanette K. Burrows, E. Zackai, M. Nance, 2022, Pediatric Surgery International.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Bo Zhang, 2018, Genetics in Medicine.

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).

E. Zackai, K. Sullivan, B. Emanuel, 1997, Arthritis and rheumatism.

B cell development in chromosome 22q11.2 deletion syndrome.

E. Zackai, K. Sullivan, E. L. Luning Prak, 2016, Clinical immunology.

Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

E. Zackai, A. Jawad, K. Sullivan, 1999, Clinical Diagnostic Laboratory Immunology.

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

E. Zackai, P. Kaplan, I. Krantz, 2018, American journal of medical genetics. Part A.

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

E. Zackai, D. Zeevi, B. Keena, 2019, American journal of medical genetics. Part A.

Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q

E. Zackai, N. Spinner, R. Schnur, 1996, Human Genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

A culture with a derivative chromosome 10 from a paternal (10;Rodriguez16) translocation

E. Zackai, B. Emanuel, A. Greene, 1977 .

A culture with a derivative chromosome 10 from a paternal (10;16) translocation. Repository identification no. GM-1396.

E. Zackai, B. Emanuel, A. Greene, 1977, Cytogenetics and Cell Genetics.

Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.

E. Zackai, N. Spinner, J. Sladky, 1996, American journal of medical genetics.

Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25

J. Rosenfeld, E. Zackai, J. Graham, 2011, American journal of medical genetics. Part A.

Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome‐like features

E. Zackai, T. Shaikh, L. Medne, 2013, American journal of medical genetics. Part A.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

Thrombocytopenia with absent radius in a boy and his uncle.

E. Zackai, R. Schnur, D. Eunpu, 1987, American journal of medical genetics.

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

E. Zackai, J. Rommens, T. Wiltshire, 1999, Nature Genetics.

Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease

E. Zackai, K. Sullivan, D. McDonald-McGinn, 2005, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Familial partial trisomy of the long arm of chromosome 10 (q24-26).

E. Zackai, W. Mellman, H. Moreno-Fuenmayor, 1975, Pediatrics.

The Genomics of Congenital Diaphragmatic Hernia: A 10 Year Retrospective Review.

E. Zackai, I. Krantz, K. T. Wild, 2022, The Journal of pediatrics.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

E. Zackai, H. Hakonarson, C. Saunders, 2019, European journal of medical genetics.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Marni J. Falk, Nathan R. Wilson, E. Zackai, 2014, Journal of Medical Genetics.

The pattern of cardiovascular malformation in the CHARGE association.

E. Zackai, A. Lin, W. Devine, 1987, American journal of diseases of children.

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency

E. Zackai, K. Sullivan, D. McDonald-McGinn, 2017, Journal of Clinical Immunology.

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

E. Zackai, A. Santani, C. Heike, 2016, Genetics in Medicine.

Tracheal anomalies in Pfeiffer syndrome.

E. Zackai, N. Hockstein, S. Bartlett, 2004, Archives of otolaryngology--head & neck surgery.

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

E. Zackai, R. Lewis, D. Lev, 2003, Journal of the National Cancer Institute.

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

E. Zackai, J. Clayton-Smith, K. Millen, 2007, American journal of human genetics.

Association of airway abnormalities with 22q11.2 deletion syndrome.

E. Zackai, K. Zur, K. Valverde, 2017, International journal of pediatric otorhinolaryngology.

Otolaryngologic manifestations of the 22q11.2 deletion syndrome.

E. Zackai, D. McDonald-McGinn, R. Kirschner, 2002, Archives of otolaryngology--head & neck surgery.

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

E. Zackai, A. Telegrafi, C. Skraban, 2018, American journal of medical genetics. Part A.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

E. Zackai, L. Biesecker, R. Hennekam, 2002, Human Genetics.

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.

E. Zackai, R. Markowitz, D. McDonald-McGinn, 1997, American journal of medical genetics.

The risk of neural tube defects to first cousins of affected individuals.

E. Zackai, R. Spielman, J. Bodurtha, 1978, UCLA forum in medical sciences.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Crouzon with Acanthosis Nigricans and Odontogenic Tumors

E. Zackai, S. Bartlett, D. McDonald-McGinn, 2018, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Beare–Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve

E. Zackai, S. Bartlett, D. McDonald-McGinn, 2015, American journal of medical genetics. Part A.

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals

E. Zackai, B. Emanuel, K. Boycott, 2009, American journal of medical genetics. Part A.

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.

E. Zackai, H. Hakonarson, Cecilia Kim, 2016, The Journal of thoracic and cardiovascular surgery.

Early Diagnosis of Fibrodysplasia Ossificans Progressiva

E. Zackai, D. Sillence, A. Ganguly, 2008, Pediatrics.

Ablepharon–Macrostomia syndrome—Extension of the phenotype

E. Zackai, S. Bartlett, D. McDonald-McGinn, 2011, American journal of medical genetics. Part A.

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation.

E. Zackai, R. Gorlin, M. Münke, 1990, American journal of medical genetics.

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

E. Zackai, J. Mandel, P. Sassone-Corsi, 1996, Nature.

Microcephaly, mild mental retardation, short stature, and skeletal anomalies in siblings.

E. Zackai, W. Sly, W. G. McAlister, 1972, American journal of diseases of children.

Mutations in the human TWIST gene

E. Zackai, K. Gripp, C. Stolle, 2000, Human mutation.

Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2021, Brain and behavior.

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

E. Zackai, E. Jabs, S. Twigg, 1999, American journal of human genetics.

Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood

E. Zackai, D. McDonald-McGinn, J. Reynolds, 2022, Journal of pediatric gastroenterology and nutrition.

Atypical teratoid/rhabdoid tumor in a patient with Beckwith–Wiedemann syndrome

E. Zackai, T. Shaikh, H. Hakonarson, 2007, American journal of medical genetics. Part A.

Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.

E. Zackai, Yi-Ju Li, D. McDonald-McGinn, 2006, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome.

E. Zackai, J. Tamai, D. McDonald-McGinn, 2004, The Journal of bone and joint surgery. American volume.

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

E. Zackai, Judith S Miller, R. Schultz, 2017, Molecular Autism.

Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow.

E. Zackai, B. Emanuel, D. Driscoll, 2000, The Journal of pediatrics.

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder

E. Zackai, H. Hakonarson, R. Schultz, 2016, Scientific Reports.

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome.

E. Zackai, K. Sullivan, D. McDonald-McGinn, 2003, The Journal of pediatrics.

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

E. Zackai, N. Spinner, R. Schnur, 1994, Human Genetics.

Neonatal presentation of I-cell disease.

E. Zackai, R. Spritz, O. Koldovský, 1978, The Journal of pediatrics.

Ankyloblepharon filiforme adnatum in trisomy 18.

E. Zackai, B. Kousseff, D. McDonald-McGinn, 1993, Journal of pediatric ophthalmology and strabismus.

Respiratory Complications of Metatropic Dwarfism

E. Zackai, F. Kaplan, J. Belik, 1985, Clinical pediatrics.

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

Maeson S. Latsko, E. Zackai, D. Koboldt, 2023, bioRxiv.

Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life‐Saving Care

E. Zackai, D. Licht, S. Nicolson, 2018, The Journal of pediatrics.

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

E. Zackai, M. Muenke, D. Gasser, 1995, American journal of human genetics.

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.

E. Zackai, K. Fischbeck, D. Gutmann, 1991, American journal of medical genetics.

X‐linked recessive aqueductal stenosis without macrocephaly

E. Zackai, W. Hickey, R. Kelley, 1988, Clinical genetics.

Osteoglophonic dwarfism in two generations.

E. Zackai, R. Kelley, P. Borns, 1983, Journal of medical genetics.

Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome

Sunny X. Tang, B. Turetsky, E. Zackai, 2018, Schizophrenia Research.

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome

Sunny X. Tang, E. Zackai, R. Gur, 2018, Schizophrenia bulletin.

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study

Sunny X. Tang, E. Zackai, R. Gur, 2017, Schizophrenia Research.

Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study

Sunny X. Tang, E. Zackai, E. Walker, 2017, Schizophrenia bulletin.

The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths

Sunny X. Tang, E. Zackai, R. Gur, 2017, Biological Psychiatry.

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome

E. Zackai, M. Calkins, T. Moore, 2017, Translational Psychiatry.

Author ’ s Accepted Manuscript White matter microstructural deficits in 22 q 11 . 2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2017 .

Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome.

Sunny X. Tang, E. Zackai, R. Gur, 2015, The Journal of clinical psychiatry.

Subthreshold psychotic symptoms in 22q11.2 deletion syndrome.

Sunny X. Tang, E. Zackai, R. Gur, 2014, Journal of the American Academy of Child and Adolescent Psychiatry.

Contribution of congenital heart disease to neuropsychiatric outcome in school‐age children with 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9

E. Zackai, N. Spinner, L. Medne, 2003, American journal of medical genetics. Part A.

Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?

E. Zackai, D. McDonald-McGinn, N. Robin, 1997, American journal of medical genetics.

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion

E. Zackai, M. Deardorff, M. Maisenbacher, 2004, American journal of medical genetics. Part A.

Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome

N. Wray, E. Zackai, M. Owen, 2019, Schizophrenia Research.

Syndrome‐specific growth charts for 22q11.2 deletion syndrome in Caucasian children

E. Zackai, D. McDonald-McGinn, N. Unanue, 2012, American journal of medical genetics. Part A.

Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and At‐Risk for psychosis

Karin E. Borgmann-Winter, E. Zackai, R. Gur, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Autoimmune disorders in Kabuki syndrome

E. Zackai, D. McDonald-McGinn, J. Ming, 2005, American journal of medical genetics. Part A.

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association

E. Zackai, D. McDonald-McGinn, J. Ming, 2003, American journal of medical genetics. Part A.

Cognitive development in VCFS

Tony J. Simon, Carrie E. Bearden, Donna M. McDonald-McGinn, 2002 .

Communication issues in 22q11.2 deletion syndrome: Children at risk

E. Zackai, M. Gerdes, D. McDonald-McGinn, 2001, Genetics in Medicine.

Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome).

E. Zackai, B. Emanuel, D. Driscoll, 1998, Journal of developmental and behavioral pediatrics : JDBP.

Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions.

Agatha D. Lee, Theo G M van Erp, Donna McDonald-McGinn, 2009, Cerebral cortex.

The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature

E. Zackai, T. Drivas, Jesse A. Taylor, 2019, American journal of medical genetics. Part A.

Interstitial deletion of 4(q21q25) in a liveborn male.

E. Zackai, B. Emanuel, D. McDonald-McGinn, 1991, American journal of medical genetics.

Title: Attention Deficit Hyperactivity Disorder symptoms and psychosis in 22q11.2 Deletion syndrome Running title: ADHD and psychosis in 22q11.2DS Authors and affiliations:

E. Zackai, R. Gur, R. Gur, 2018 .

Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes

E. Zackai, H. Hakonarson, Helio F. Pedro, 2021, American journal of medical genetics. Part A.

Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

E. Zackai, Judith S Miller, R. Schultz, 2016, Molecular Autism.

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

E. Zackai, Judith S Miller, R. Schultz, 2016, Molecular Autism.

Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities

Sunny X. Tang, E. Zackai, R. Gur, 2014, Molecular Psychiatry.

Gene location in neurofibromatosis.

E. Zackai, D. Stambolian, 1988, American journal of medical genetics.

Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study

James C. Gee, Tony J. Simon, Lijun Ding, 2005, NeuroImage.

Recurrence rate for de novo 21q21q translocation Down syndrome: a study of 112 families.

E. Zackai, B. Emanuel, M. Mennuti, 1984, American journal of medical genetics.

Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.

E. Zackai, B. Emanuel, D. Driscoll, 1999, The Journal of pediatrics.

A (10;17) translocation, balanced, 46 chromosomes

E. Zackai, A. Greene, L. Coriell, 1975 .

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2010, American journal of human genetics.

Anomalies with ring D chromosome.

E. Zackai, J. Williams, M. Smith, 1972, American journal of ophthalmology.

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.

E. Zackai, B. Emanuel, P. Moorhead, 1976, Journal of medical genetics.

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome

E. Zackai, S. Sanna-Cherchi, D. McDonald-McGinn, 2019, American Journal of Medical Genetics. Part A.

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome

E. Zackai, D. McDonald-McGinn, N. Khalek, 2018, American journal of medical genetics. Part A.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Yiran Guo, 2021, Human Genetics.

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

E. Zackai, B. Wiśniowiecka-Kowalnik, M. Smyk, 2023, Genes.

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

E. Zackai, M. Deardorff, A. Telegrafi, 2018, American journal of medical genetics. Part A.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

E. Zackai, I. Krantz, N. Spinner, 2018, Genetics in Medicine.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

E. Zackai, K. Lage, P. Donahoe, 2012, American journal of medical genetics. Part A.

22q and two: 22q11.2 deletion syndrome and coexisting conditions

E. Zackai, B. Emanuel, D. McDonald-McGinn, 2018, American journal of medical genetics. Part A.

Rates of autism and potential risk factors in children with congenital heart defects

E. Zackai, J. Gaynor, J. Bernbaum, 2017, Congenital heart disease.

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

E. Zackai, H. Hakonarson, J. Rychik, 2022, Genes.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature

E. Zackai, S. Christian, L. Medne, 2014, American journal of medical genetics. Part A.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

E. Zackai, J. Vermeesch, B. Emanuel, 2019, Genetics in Medicine.

Autosomal dominant mannose‐binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants

E. Zackai, H. Hakonarson, D. Nickerson, 2017, The Journal of thoracic and cardiovascular surgery.

The Dysmorphic Infant

E. Zackai, C. Haldeman-Englert, S. Saitta, 2018 .

MANGANESE deficiency.

E. Zackai, G. Reifenberger, T. Dierks, 2022, Journal of the American Veterinary Medical Association.

The Neurofibromatosis Clinic of the Children's Hospital of Philadelphia.

E. Zackai, A. Meadows, A. C. Obringer, 1988, Neurofibromatosis.

A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD

E. Zackai, H. Hakonarson, D. Nickerson, 2017, Cardiology in the Young.

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

E. Zackai, H. Hakonarson, Sarah E. Sheppard, 2022, European Journal of Human Genetics.

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

E. Zackai, H. Hakonarson, Sarah E. Sheppard, 2022, European Journal of Human Genetics.

Blepharo-cheilo-dontic (BCD) syndrome.

E. Zackai, M. Warburg, B. Prahl-Andersen, 2009, American journal of medical genetics.

22q11.2 Deletion syndrome and obstructive sleep apnea.

E. Zackai, C. Marcus, D. McDonald-McGinn, 2014, International journal of pediatric otorhinolaryngology.

Orofacial Manifestations of Stickler Syndrome

E. Zackai, A. Jawad, D. McDonald-McGinn, 2020, Annals of plastic surgery.

Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis

E. Zackai, R. Arens, J. McDonough, 2006 .

Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis.

E. Zackai, R. Arens, J. McDonough, 2006, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Infantile spasms associated with proximal duplication of chromosome 15q.

E. Zackai, N. Spinner, P. Chance, 1996, Pediatric neurology.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications

E. Zackai, K. Sullivan, D. McDonald-McGinn, 2023, Journal of Clinical Immunology.

De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)

E. Zackai, N. Spinner, D. McDonald-McGinn, 1993, Clinical genetics.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Kabuki syndrome as a cause of non‐immune fetal hydrops/ascites

E. Zackai, A. Edmondson, Ashleigh Long, 2016, American journal of medical genetics. Part A.

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation

E. Zackai, J. Ganesh, R. Ganetzky, 2015, American journal of medical genetics. Part A.

The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis

E. Zackai, I. Campbell, B. Keena, 2022, American journal of medical genetics. Part A.

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

E. Zackai, I. Krantz, R. Ganetzky, 2022, Pediatrics.

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2009, European journal of medical genetics.

Neuropathological Findings in Eight Children with Cerebro‐oculo‐facio‐skeletal (COFS) Syndrome

E. Zackai, L. Rorke, R. Schnur, 1997, Journal of neuropathology and experimental neurology.

A human case of SLC35A3‐related skeletal dysplasia

E. Zackai, M. Deardorff, E. Bedoukian, 2017, American journal of medical genetics. Part A.

Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome

Joel P. Bish, E. Zackai, D. McDonald-McGinn, 2006, Neuroscience Letters.

Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome.

Donna McDonald-McGinn, Elaine Zackai, Joel P. Bish, 2005, Developmental science.

Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion

E. Zackai, A. Brooks-Kayal, D. Lynch, 2004, American journal of medical genetics. Part A.

Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.

E. Zackai, S. Kenwrick, H. Woffendin, 1998, American journal of medical genetics.

Bi-allelic variants in the ER quality control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

E. Zackai, D. Rader, S. Ellard, 2021, American journal of human genetics.

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome

E. Zackai, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome‐wide SNP array

E. Zackai, N. Spinner, L. Conlin, 2013, American journal of medical genetics. Part A.

Mosaic trisomy 17: Variable clinical and cytogenetic presentation

E. Zackai, N. Spinner, H. Hakonarson, 2011, American journal of medical genetics. Part A.

Robinow syndrome: a diagnosis at the fingertips.

E. Zackai, B. Keena, C. Murali, 2018, Clinical dysmorphology.

Neurodevelopmental Outcome Hyperglycemia After Infant Cardiac Surgery Does Not Adversely Impact

E. Zackai, T. Spray, J. Bernbaum, 2013 .

Hyperglycemia after infant cardiac surgery does not adversely impact neurodevelopmental outcome.

E. Zackai, S. Nicolson, T. Spray, 2007, The Annals of thoracic surgery.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2023, Psychological Medicine.

Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2016, European Neuropsychopharmacology.

Long-term follow-up of ocular findings in children with Stickler's syndrome.

E. Zackai, G. Quinn, D. McDonald-McGinn, 1996, American journal of ophthalmology.

Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11.

R A Zimmerman, E. Zackai, R. Zimmerman, 1997, American journal of medical genetics.

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

H. Mefford, E. Zackai, D. Zeevi, 2020, American journal of human genetics.

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

E. Zackai, K. Sullivan, J. Gaynor, 2017, The journal of allergy and clinical immunology. In practice.

Stickler's syndrome in the Cleft Palate Clinic.

E. Zackai, G. Quinn, D. Stambolian, 1990, Journal of pediatric ophthalmology and strabismus.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

J. Rosenfeld, E. Zackai, A. Pagnamenta, 2017, Genetics in Medicine.

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Cecilia Kim, 2015, American journal of medical genetics. Part A.

A newly recognized craniosynostosis syndrome with features of Aarskog–Scott and Teebi syndromes

E. Zackai, L. Medne, J. Hoffman, 2007, American journal of medical genetics. Part A.

Polymicrogyria in chromosome 22 deletion syndrome

E. Zackai, D. McDonald-McGinn, P M Bingham, 1998, Neurology.

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

E. Zackai, M. Gerdes, D. McDonald-McGinn, 2001, Genetics in Medicine.

A (10;17) translocation, unbalanced, 46 chromosomes

E. Zackai, A. Greene, L. Coriell, 1975 .

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

J. Gécz, E. Zackai, N. Spinner, 1999, Human Genetics.

CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

E. Zackai, R. Ganetzky, A. Santani, 2014, American journal of medical genetics. Part A.

“CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases” American Journal of Medical Genetics Part A. 164:2557‐2566, 2014

E. Zackai, R. Ganetzky, A. Santani, 2015, American journal of medical genetics. Part A.

Patient genotypes impact survival after surgery for isolated congenital heart disease.

E. Zackai, H. Hakonarson, D. Nickerson, 2014, The Annals of thoracic surgery.

New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis

E. Zackai, S. Bartlett, D. McDonald-McGinn, 2015, The Journal of craniofacial surgery.

Mutations in the human TWIST gene

E. Zackai, K. Gripp, C. Stolle, 2000, Human mutation.

Neural tube defects, diabetes, and serum α-fetoprotein screening

E. Zackai, M. Mennuti, D. Eunpu, 1983 .

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.

E. Zackai, K. Conard, A. Donnenfeld, 1987, American journal of medical genetics.

Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes

T. DeBoer, E. Zackai, Y. Takarae, 2008, Neuropsychologia.

Craniosynostosis: molecular testing-a necessity for counseling.

E. Zackai, K. Gripp, C. Stolle, 2000, American journal of medical genetics.

Hyperglycaemia after Stage I palliation does not adversely affect neurodevelopmental outcome at 1 year of age in patients with single-ventricle physiology.

E. Zackai, J. Gaynor, J. Bernbaum, 2009, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Deletion of 2p: a cytogenetic and clinical update.

E. Zackai, B. Emanuel, J. Neidich, 1987, American journal of medical genetics.

Perioperative Risk Factors in Patients with 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction

E. Zackai, D. McDonald-McGinn, C. Solot, 2015, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

E. Zackai, Soma Das, E. Weiss, 2015, American journal of medical genetics. Part A.

Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder

E. Zackai, L. Schieve, N. Dowling, 2020, Autism research : official journal of the International Society for Autism Research.

Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome

E. Zackai, N. Lambert, B. Krock, 2020, American journal of medical genetics. Part A.

Effect of congenital heart disease on 4‐year neurodevelopment within multiple‐gestation births

E. Zackai, G. Jarvik, S. Nicolson, 2017, The Journal of thoracic and cardiovascular surgery.

Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome

E. Zackai, D. Zarnow, L. Beslow, 2023, Neuropediatrics.

Circumferential ringed creases ("Michelin tire babies") with specific histologic findings and/or karyotype abnormalities: clues to molecular pathogenesis?

E. Zackai, R. Schnur, 1997, American journal of medical genetics.

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring

E. Zackai, N. Spinner, S. Saitta, 2008, American journal of medical genetics. Part A.

Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies

E. Zackai, K. Nichols, Kristin Zelley, 2015, American journal of medical genetics. Part A.

Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome.

E. Zackai, A. Strong, C. Mcdougall, 2019, Clinical Dysmorphology.

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio‐oculo‐facial syndrome

E. Zackai, H. Calkins, D. Judge, 2013, American journal of medical genetics. Part A.

Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.

E. Zackai, J. Allanson, N. Robin, 1994, Human molecular genetics.

Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva

E. Zackai, H. Kayserili, N. Haga, 2016, Pediatric Radiology.

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome

Megan K. Lessig, E. Zackai, E. Goldmuntz, 2018, American Journal of Medical Genetics. Part A.

Magnetic resonance angiography (MRA) in preoperative planning for patients with 22q11.2 deletion syndrome undergoing craniofacial and otorhinolaryngologic procedures.

E. Zackai, D. McDonald-McGinn, Oksana A. Jackson, 2020, International journal of pediatric otorhinolaryngology.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Corrigendum to "The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome" [J. Psychiatr. Res. 92 (2017) 124-131].

Sunny X. Tang, E. Zackai, R. Gur, 2019, Journal of Psychiatric Research.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

C Eng, K. Lunetta, C. Romano, 1999, Human molecular genetics.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

E. Zackai, B. Clark, K. Sullivan, 1995, American journal of medical genetics.

Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23.

E. Zackai, D. Swallow, B. Emanuel, 1979, American journal of medical genetics.

Maternal uniparental disomy for chromosome 14.

E. Zackai, G. Reifenberger, T. Dierks, 1991, Journal of medical genetics.

Interstitial deletion 13q33 resulting from maternal insertional translocation

E. Zackai, L. Moreau, P. Coates, 1979, Clinical genetics.

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

E. Zackai, A. Munnich, M. Polak, 2001, Journal of medical genetics.

Mesangiocapillary glomerulonephritis.

E. Zackai, I. Harting, B. McGuinness, 1992, Journal of the American Society of Nephrology : JASN.

Communication disorders in the 22Q11.2 microdeletion syndrome.

E. Zackai, D. Driscoll, M. Gerdes, 2000, Journal of communication disorders.

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome

E. Zackai, M. Deardorff, A. Wilkens, 2023, American journal of medical genetics. Part A.

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.

Mark J. Bowser, E. Zackai, B. Morrow, 2013, International journal of pediatric otorhinolaryngology.

Trisomy 21: rate in second-degree relatives.

E. Zackai, D. Eunpu, D. M. McDonald, 1986, American journal of medical genetics.

Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome.

E. Zackai, P. Weinberg, L. Rorke, 1988, Pediatrics.

Autosomal dominant {open_quotes}Opitz{close_quotes} GBBB syndrome due to a 22q11.2 deletion

E. Zackai, B. Emanuel, D. McDonald-McGinn, 1996 .

Long‐term follow‐up of three individuals with Kabuki syndrome

E. Zackai, S. Langlois, L. Clarke, 2004, American journal of medical genetics. Part A.

Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.

E. Zackai, S. Weinzimer, D. Driscoll, 1998, Pediatrics.

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

E. Zackai, I. Krantz, Zhe Zhang, 2015, Nature Genetics.

Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome

E. Zackai, B. Morrow, A. Bassett, 2022, Genes.

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome

Megan K. Lessig, E. Zackai, B. Emanuel, 2018, American journal of medical genetics. Part A.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2014, Nature Communications.

Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome

E. Zackai, Sarah E. Sheppard, K. T. Wild, 2021, American journal of medical genetics. Part A.