A. Slavotinek

发表

Special section. Syndrome‐specific growth charts

J. Allanson, K. Gripp, Judith G Hall, 2012, American journal of medical genetics. Part A.

Judith G. Hall, Karen W. Gripp, J. Allanson, 2006 .

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Mohamed G. Hassan, P. Kwok, S. Baranzini, 2011, Journal of Medical Genetics.

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

G. Shaw, A. Slavotinek, D. Schorderet, 2012, Human mutation.

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

H. Baier, A. Slavotinek, D. Schorderet, 2013, Human molecular genetics.

A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

S. Lachke, A. Slavotinek, D. Anand, 2018, Human Genetics.

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia

A. Slavotinek, 2018, Human Genetics.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

R. Hennekam, J. Tolmie, G. Mortier, 2007, American Journal of Human Genetics.

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration

A. Slavotinek, K. Bove, B. West, 2009, American journal of medical genetics. Part A.

Eye development genes and known syndromes.

Anne M Slavotinek, A. Slavotinek, 2011, Molecular genetics and metabolism.

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

S. Aftimos, A. Slavotinek, J. Moeschler, 2009, Journal of Medical Genetics.

Chromosome abnormalities and genetic counseling, 3rd edn

A. Slavotinek, 2004 .

Pregnancy outcomes following exposure to onabotulinumtoxinA†

M. Brin, A. Slavotinek, R. Kirby, 2015, Pharmacoepidemiology and drug safety.

Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)

M. P. Douglas, A. Slavotinek, K. Phillips, 2019, Genetics in Medicine.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Non‐syndromic hemihyperplasia in a male and his mother

M. Muenke, A. Slavotinek, M. Collins, 2003, American journal of medical genetics. Part A.

Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for neural crest cells?

A. Lin, A. Slavotinek, B. Pober, 2005, American journal of medical genetics. Part A.

Genetic modifiers in human development and malformation syndromes, including chaperone proteins.

L. Biesecker, A. Slavotinek, 2003, Human molecular genetics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

Monosomy 1 p 36

er, A. Slavotinek, S. K. Shapira, 1999 .

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia

A. Slavotinek, K. Vargervik, S. Shankar, 2010, American journal of medical genetics. Part A.

The genetics of congenital diaphragmatic hernia.

A. Slavotinek, 2005, Seminars in perinatology.

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

K. Devriendt, J. Vermeesch, J. Deprest, 2014, European Journal of Human Genetics.

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies

A. Slavotinek, J. V. Van Ziffle, P. Devine, 2022, American journal of medical genetics. Part A.

A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.

U. Hodoğlugil, A. Slavotinek, J. V. Van Ziffle, 2020, European journal of medical genetics.

Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome

A. Moore, A. Slavotinek, D. Chan, 2020, The Laryngoscope.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

M. Shaw, J. Gécz, M. Brudno, 2021, European Journal of Human Genetics.

Single gene disorders associated with congenital diaphragmatic hernia

A. Slavotinek, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome.

H. Dietz, A. Slavotinek, E. Dubovsky, 2002, American journal of medical genetics.

BARDET–BIEDL SYNDROME

A. Slavotinek, 2005, Cassidy and Allanson's Management of Genetic Syndromes.

Modeling Pathogenic Variants in the RNA Exosome.

Derrick J. Morton, A. Slavotinek, A. Corbett, 2020, RNA & disease.

Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype

A. Slavotinek, C. Galarreta, Colleen Kennedy, 2022, American journal of medical genetics. Part A.

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy

N. Risch, Shannon Rego, F. Alkuraya, 2019, American journal of medical genetics. Part A.

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

L. Biesecker, A. Nordgren, J. Johnston, 2007, Human molecular genetics.

Hypodontia in Beare-Stevenson Syndrome: An Example of Dental Anomalies in FGFR-Related Craniosynostosis Syndromes

A. Slavotinek, K. Vargervik, S. Oberoi, 2009 .

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

Stephan J Sanders, L. Laurent, U. Hodoğlugil, 2020, The New England journal of medicine.

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome

A. Slavotinek, Sanjin Tunovic, J. Barkovich, 2015, American journal of medical genetics. Part A.

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

H. Mefford, K. Yamakawa, M. Bainbridge, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanded spectrum of oculo–auriculo–vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations

A. Slavotinek, K. Vargervik, 2011, Clinical dysmorphology.

Case reports of oculofaciocardiodental syndrome with unusual dental findings

J. Johnston, A. Slavotinek, K. Vargervik, 2005 .

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

L. Gaunt, A. Slavotinek, D. Donnai, 1997, Journal of medical genetics.

Population‐based analysis of left‐ and right‐sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies

G. Shaw, A. Lin, A. Slavotinek, 2007, American journal of medical genetics. Part A.

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

A. Slavotinek, E. Wu, K. Vargevik, 2007, American journal of medical genetics. Part A.

The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research.

Matthew R. Norstad, B. Koenig, A. Slavotinek, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome

A. Slavotinek, Monica Penon-Portmann, C. Carlston, 2022, Molecular Syndromology.

Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.

L. Biesecker, A. Slavotinek, 2000, American journal of medical genetics.

Are topoisomerases required for Mammalian Chromosome Segregation

A. T. Sumner, A. Slavotinek, P. Perry, 1993 .

Clinical features and management issues in Mowat–Wilson syndrome

J. Graham, L. Hudgins, Kimberly M Barr, 2006, American journal of medical genetics. Part A.

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

A. Hattersley, S. Ellard, A. Slavotinek, 2015, The Journal of clinical endocrinology and metabolism.

Mutations and Nucleotide Changes Relating to Mutations in GLIS 3

A. Hattersley, S. Ellard, A. Slavotinek, 2015 .

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects

S. Lachke, A. Slavotinek, D. Anand, 2018, Human mutation.

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B

Shannon Rego, A. Slavotinek, M. Cilio, 2019, American journal of medical genetics. Part A.

Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results

B. Korf, A. Slavotinek, Alexander E. Katz, 2021, Clinical genetics.

Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafish

B. Dallapiccola, A. Bruselles, M. Tartaglia, 2021 .

Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1

J. Duncan, A. Moore, A. Slavotinek, 2017, Ophthalmic Genetics.

Recognizable syndromes in the newborn period.

A. Slavotinek, M. Ali, 2015, Clinics in perinatology.

Measurement of radiation survival using the MTT assay.

T. McMillan, A. Slavotinek, C. M. Steel, 1994, European journal of cancer.

Two unique patients with trisomy 18 mosaicism and molecular marker studies

L. Gaunt, A. Slavotinek, A. Wallace, 2003, American journal of medical genetics. Part A.

ACTH receptor mutation in a girl with familial glucocorticoid deficiency

D. Dunger, J. Hurst, A. Wilkie, 1998, Clinical genetics.

Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech.

B. Solomon, A. Slavotinek, 2020, American journal of medical genetics. Part A.

Saethre-Chotzen Syndrome: A Case Report

A. Slavotinek, S. Oberoi, William A Peña, 2009, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia

P. Kwok, S. Baranzini, E. Wan, 2017, Ophthalmic Genetics.

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation

J. Rosenfeld, P. Stankiewicz, D. Stockton, 2011, American journal of medical genetics. Part A.

Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features

E. Sanford, A. Slavotinek, Hanmin Lee, 2012, American journal of medical genetics. Part A.

Familial patent ductus arteriosus: a further case of CHAR syndrome.

J. Clayton-Smith, A. Slavotinek, M. Super, 1997, American journal of medical genetics.

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

B. Gelb, C. Stratakis, M. Tartaglia, 2005, Journal of Medical Genetics.

Molecular Genetics and Metabolism

A. Slavotinek, 2011 .

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.

Tina Rutar, E. Stone, J. Duncan, 2010, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

E. Giannoulatou, S. Dunwoodie, N. Pachter, 2020 .

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.

E. Giannoulatou, S. Dunwoodie, N. Pachter, 2019, Human molecular genetics.

Predicting genes from phenotypes using human phenotype ontology (HPO) terms

M. Kvale, Shannon Rego, A. Slavotinek, 2021, Human Genetics.

Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.

Kathleen F. Mittendorf, L. Hindorff, F. Lynch, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

R. Desnick, L. Edelmann, A. Aggarwal, 2017, Journal of Medical Genetics.

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

M. Ahmadian, B. Dallapiccola, A. Bruselles, 2022, Nature Communications.

Sudden death caused by pulmonary thromboembolism in Proteus syndrome

L. Biesecker, A. Slavotinek, S. Vacha, 2000, Clinical genetics.

Baraitser–Winter cerebrofrontofacial syndrome: Report of two adult siblings

A. Slavotinek, pierre-Marie Martin, C. Carlston, 2020, American journal of medical genetics. Part A.

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome

A. Slavotinek, E. Sherr, A. Chudley, 2006, American journal of medical genetics. Part A.

The expanding spectrum of NFIB‐associated phenotypes in a diverse patient population—A report of two new patients

Shannon Rego, A. Slavotinek, pierre-Marie Martin, 2020, American journal of medical genetics. Part A.

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Jeffrey N. Dudley, R. Holt, A. Schäffer, 2019, Journal of Medical Genetics.

Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases

J. M. van de Kamp, A. Slavotinek, C. Greenberg, 2007, American journal of medical genetics. Part A.

Targeting the Complement–Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy

D. Prows, R. Hopkin, A. Slavotinek, 2022, International journal of molecular sciences.

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

G. Cooper, B. Korf, K. Bowling, 2022, Genome Medicine.

2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia.

L. Jeng, E. Sanford, A. Slavotinek, 2013, Clinical dysmorphology.

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

P. Kwok, S. Chervitz, M. Clark, 2015, Clinical genetics.

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia

A. Slavotinek, 2018, Human Genetics.

Late‐onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma

L. Biesecker, P. Munster, F. Barr, 2022, American journal of medical genetics. Part A.

Automated syndrome diagnosis by three-dimensional facial imaging

David C. Katz, Jordan J. Bannister, Jacinda R. Larson, 2020, Genetics in Medicine.

Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis.

Yvonne W Wu, A. Slavotinek, M. Gardner, 2012, Pediatric neurology.

Cytogenetic evaluation of the mechanism of cell death induced by the novel anthracenyl-amino acid topoisomerase II catalytic inhibitor NU/ICRF 500.

J. S. Macpherson, J. Cummings, J. Smyth, 1995, Mutation research.

Systemic Hyalinosis: A Distinctive Early Childhood–Onset Disorder Characterized by Mutations in the Anthrax Toxin Receptor 2 Gene (ANTRX2)

C. Sandborg, H. Hoyme, J. Martignetti, 2006, Pediatrics.

Introducing in AJMG Part A: Genetic Syndromes in Adults

M. Muenke, A. Slavotinek, 2019, American journal of medical genetics. Part A.

Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency

J. Duncan, A. Moore, A. Slavotinek, 2022, Ophthalmic genetics.

Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population

N. Sobreira, A. Moore, Elizabeth S Wohler, 2020, Clinical genetics.

Chromosome painting of radiation-induced micronuclei.

G. M. Taylor, H. Braselmann, M. Nüsse, 1996, International journal of radiation biology.

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Christina Lam, C. Ferreira, A. Freeman, 2021, Genetics in Medicine.

Childhood Vulval Lichen Sclerosus in a Patient with Ectodermal Dysplasia and Uncombable Hair

S. Huson, A. Slavotinek, F. Wojnarowska, 1998, Pediatric dermatology.

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

P. Kwok, K. Devriendt, R. Desnick, 2013, Human molecular genetics.

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

C. Tifft, A. Slavotinek, 2002, Journal of medical genetics.

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract

A. Slavotinek, E. Beyer, P. Minogue, 2017, PloS one.

Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.

A. Slavotinek, H. Kingston, 1997, Journal of medical genetics.

The frequency of micronuclei in bone-marrow erythroblasts during the treatment of childhood acute lymphoblastic leukaemia.

A. Slavotinek, C. M. Steel, P. Perry, 1993, Mutation research.

Partial tetrasomy 21 in a male infant

X. Chen, J. Korenberg, L. Gaunt, 2000, Journal of medical genetics.

Craniofacial defects of blastogenesis: Duplication of pituitary with cleft palate and orophgaryngeal tumors

E. Huang, C. Heike, A. Hing, 2005, American journal of medical genetics. Part A.

The genetics of common disorders - congenital diaphragmatic hernia.

A. Slavotinek, 2014, European journal of medical genetics.

Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: Phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

H. Zayed, A. Slavotinek, M. Parisi, 2009, American journal of medical genetics. Part A.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Cell reports.

ABCA12 is the major harlequin ichthyosis gene.

D. Kelsell, E. Sprecher, A. Slavotinek, 2006, The Journal of investigative dermatology.

A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

S. Lachke, A. Slavotinek, D. Anand, 2018, Human Genetics.

A comparison of micronucleus frequency and radiation survival in lymphoblastoid cell lines.

T. McMillan, A. Slavotinek, C. M. Steel, 1993, Mutagenesis.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: Genetic heterogeneity of McKusick–Kaufman syndrome or a unique syndrome?

A. Dutra, L. Biesecker, A. Slavotinek, 2004, American journal of medical genetics. Part A.

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

G. Bouffard, L. Biesecker, A. Baxevanis, 2000, Nature Genetics.

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

R. Person, Y. Weber, M. Weiss, 2020, European journal of medical genetics.

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

N. Risch, P. Kwok, M. Kvale, 2017, European journal of medical genetics.

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

Allen D. Delaney, H. Baier, P. Kwok, 2010, PloS one.

Monosomy 1p36

L. Shaffer, A. Slavotinek, S. K. Shapira, 1999, Journal of medical genetics.

The FgfrL1 receptor is required for development of slow muscle fibers.

A. Slavotinek, S. Wyder, B. Trueb, 2014, Developmental biology.

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome

A. Slavotinek, Sanjin Tunovic, E. Sherr, 2014, American journal of medical genetics. Part A.

Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.

J. Clayton-Smith, B. Kerr, A. Slavotinek, 1999, Clinical dysmorphology.

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm

V. Popovici, A. Slavotinek, Nelson D Lopezjimenez, 2010, Human Genetics.

Novel microdeletion syndromes detected by chromosome microarrays

A. Slavotinek, 2008, Human Genetics.

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

L. Jeng, A. Slavotinek, Zhongxia Qi, 2015, BMC Medical Genomics.

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

Anthony Johnson, Daryl A Scott, Thomas Schaible, 2011, Journal of Medical Genetics.

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

J. Flint, L. Gaunt, J. Clayton-Smith, 1999, Journal of medical genetics.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, R. Møller, M. Shinawi, 2020, Genetics in Medicine.

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

D. Misceo, D. Schneidman-Duhovny, J. Duncan, 2020, bioRxiv.

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

D. Schneidman-Duhovny, K. Gripp, G. Mancini, 2019, European Journal of Human Genetics.

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

P. Kwok, E. Wan, Di Wu, 2017, American journal of ophthalmology case reports.

Genetic analysis of consanguineous families presenting with congenital ocular defects.

P. Kwok, A. Slavotinek, R. Lao, 2016, Experimental eye research.

Expansion of phenotype and genotypic data in CRB2-related syndrome

A. Fulton, D. Schneidman-Duhovny, A. Rajkovic, 2016, European Journal of Human Genetics.

DLX4 is associated with orofacial clefting and abnormal jaw development.

P. Kwok, O. Klein, E. Wan, 2015, Human molecular genetics.

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

P. Kwok, G. Shaw, E. Wan, 2014, European Journal of Human Genetics.

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.

Utility of genetic work-up for 46, XY patients with severe hypospadias.

A. Slavotinek, M. Lodish, J. Tenney, 2022, Journal of pediatric urology.

Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in KMT2A (MLL)

A. Slavotinek, B. Mendelsohn, N. Smaoui, 2014, American journal of medical genetics. Part A.

Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies

L. Jeng, A. Slavotinek, P. Ursell, 2014, American journal of medical genetics. Part A.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

J. Rosenfeld, H. Mefford, E. Eichler, 2011, Journal of Medical Genetics.

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.

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.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Sheri D Schully, Katrina A B Goddard, Alan F Scott, 2016, Genetics in Medicine.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

E. Mercuri, A. Slavotinek, Emanuela Ponzi, 2015, European Journal of Human Genetics.

Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish

A. Slavotinek, M. Krall, S. Htun, 2019, PloS one.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

A maternally inherited chromosome 18q22.1 deletion in a male with late‐presenting diaphragmatic hernia and microphthalmia–evaluation of DSEL as a candidate gene for the diaphragmatic defect

Allen D. Delaney, G. Shaw, A. Delaney, 2010, American journal of medical genetics. Part A.

Unfolding the role of chaperones and chaperonins in human disease.

L. Biesecker, A. Slavotinek, 2001, Trends in genetics : TIG.

Fryns syndrome: A review of the phenotype and diagnostic guidelines

A. Slavotinek, 2004, American journal of medical genetics. Part A.

KBG Syndrome: Report of Twins, Neurological Characteristics, and Delineation of Diagnostic Criteria

A. Slavotinek, K. Skjei, M.M. Martin, 2007 .

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

A. Battaglia, C. Curry, A. Slavotinek, 2014, American journal of medical genetics. Part A.

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

N. Risch, P. Kwok, S. Fullerton, 2018, American journal of human genetics.

TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia

J. Pomerantz, M. Dorsey, A. Slavotinek, 2019, Molecular genetics & genomic medicine.

Uniparental Disomy

A. Slavotinek, D. Siegel, 2005, Pediatric dermatology.

Application of full-genome analysis to diagnose rare monogenic disorders

Andrew G. Sharo, P. Kwok, S. Brenner, 2020, npj Genomic Medicine.

Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent‐1 segregants

A. Slavotinek, C. Kozma, J. Meck, 2004, American journal of medical genetics. Part A.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group

Elizabeth M Webber, Elizabeth M. Webber, Meredith A. Weaver, 2018, Human mutation.

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2

G. Shaw, L. Pennacchio, A. Moshrefi, 2006, European Journal of Human Genetics.

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

D. Pinkel, D. Albertson, A. Slavotinek, 2005, Journal of Medical Genetics.

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

G. Shaw, L. Pennacchio, Y. Saijoh, 2007, European Journal of Human Genetics.

Fryns syndrome with osteochondrodysplasia

A. Slavotinek, H. Robinson, M. A. Steele, 2005, American journal of medical genetics. Part A.

Fryns syndrome: report of eight new cases.

A. Slavotinek, R. Keller, M. Dasouki, 2005, Genetics in medicine : official journal of the American College of Medical Genetics.

Micronuclei: a biological indicator of radiation damage.

C. Streffer, W. Müller, M. Nüsse, 1996, Mutation research.

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

Shannon Rego, S. Dunwoodie, P. Shannon, 2021, Human mutation.

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2

A. Slavotinek, T. Bardakjian, S. Kwok, 2010, American journal of medical genetics. Part A.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

N. Mulder, E. Tobias, B. Korf, 2021, Genetics in Medicine.

Recurrent duplications of 17q12 associated with variable phenotypes

Tomas W. Fitzgerald, N. Carter, A. Alberti, 2015, American journal of medical genetics. Part A.

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

R. Nussbaum, K. Ormond, S. Aradhya, 2021, BMC Medicine.

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura

J. Graham, A. Cantor, A. Slavotinek, 2016, Journal of pregnancy.

Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.

Matthew R. Norstad, Shannon Rego, T. Sparks, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)

M. P. Douglas, A. Slavotinek, K. Phillips, 2019, Genetics in Medicine.

Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study

Beth K. Martin, J. Shendure, K. Friend, 2015, The Lancet Neurology.

Private Payer Coverage Policies for Whole Exome Sequencing (WES) in Pediatric Patients: Trends Over Time and Analysis of Evidence Cited

S. Parker, M. P. Douglas, A. Slavotinek, 2018, Genetics in Medicine.

Private Payer Coverage Policies for Whole Exome Sequencing (WES) in Pediatric Patients: Trends Over Time and Analysis of Evidence Cited

S. Parker, M. P. Douglas, A. Slavotinek, 2018, Genetics in Medicine.

Case report: Y;6 translocation with deletion of 6p

O. Klein, A. Slavotinek, E. Marco, 2005, Clinical dysmorphology.

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Michael M. Khayat, Magalie S Leduc, J. Rosenfeld, 2018, bioRxiv.

Clinical care models in the era of next‐generation sequencing

A. Slavotinek, 2016, Molecular genetics & genomic medicine.

DNM1 encephalopathy

I. Scheffer, H. Kirsch, S. Sisodiya, 2017, Neurology.

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue

A. Slavotinek, J. Hyland, J. Hogue, 2013, American journal of medical genetics. Part A.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

P. Calvas, N. Chassaing, C. Gilissen, 2020, Journal of Human Genetics.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

D. Schneidman-Duhovny, S. Dunwoodie, N. Pachter, 2017, Human molecular genetics.

Preference for secondary findings in prenatal and pediatric exome sequencing

Shannon Rego, B. Koenig, T. Sparks, 2021, Prenatal diagnosis.

Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association.

A. Slavotinek, Patrícia Miranda, 2017, Clinical dysmorphology.

Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome

A. Kuijpers-Jagtman, T. Kleefstra, I. Feenstra, 2014, Clinical genetics.

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.

Mutations in MKKS cause Bardet-Biedl syndrome

V. Sheffield, L. Biesecker, E. Stone, 2001, Nature Genetics.

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes

A. Slavotinek, Luke M. Judge, Priyanka Murali, 2018, American journal of medical genetics. Part A.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

L. Zon, Elliott J. Hagedorn, L. Notarangelo, 2017, The Journal of experimental medicine.

Novel FGFR2 deletion in a patient with Beare–Stevenson‐like syndrome

M. Friez, M. Golabi, A. Slavotinek, 2009, American journal of medical genetics. Part A.

Mutations in MKKS cause Bardet-Biedl syndrome

V. Sheffield, L. Biesecker, E. Stone, 2000, Nature Genetics.

A female infant with duplication of chromosome 2q33 to 2q37.3

A. Slavotinek, Debra Boles, F. Lacbawan, 2003, Clinical dysmorphology.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

T. Sparks, A. Slavotinek, C. Thauvin, 2021, European journal of medical genetics.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Manitoba Oculotrichoanal Syndrome

A. Slavotinek, A. Chudley, Chumei Li, 2011 .

An emerging, recognizable facial phenotype in association with mutations in GLI‐similar 3 (GLIS3)

A. Slavotinek, E. De Franco, F. Gurbuz, 2016, American journal of medical genetics. Part A.

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

A. Slavotinek, Madelena M Martin, Tai Lockspieler, 2007, Clinical dysmorphology.

Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.

A. Slavotinek, W. Devine, Balram Gangaram, 2022, European journal of medical genetics.

Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby

A. Slavotinek, H. Kingston, 2000, Journal of medical genetics.

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)

R. Taft, A. Moore, A. Slavotinek, 2018, American journal of medical genetics. Part A.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

The FgfrL 1 receptor is required for development of slow muscle fi bers

A. Slavotinek, S. Wyder, B. Trueb, 2014 .

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae

R. Hopkin, A. Slavotinek, B. Mendelsohn, 2017, American journal of medical genetics. Part A.

Micronuclei in neonatal lymphocytes treated with the topoisomerase II inhibitors amsacrine and etoposide.

A. Slavotinek, P. Perry, A. T. Sumner, 1993, Mutation research.

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.

A. Slavotinek, H. Kingston, F. Goodman, 1999, American journal of medical genetics.

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

D. Schneidman-Duhovny, G. Schmajuk, A. Slavotinek, 2015, American journal of human genetics.

Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients

G. Mirzaa, A. Slavotinek, R. Schnur, 2022, Clinical Genetics.

The Family of Crumbs Genes and Human Disease

A. Slavotinek, 2016, Molecular Syndromology.

Video image analysis of labile zinc in viable pancreatic islet cells using a specific fluorescent probe for zinc.

A. D. Ward, W. H. Betts, A. Slavotinek, 1994, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

S. Huson, A. Slavotinek, P. Gregory, 1997, Journal of medical genetics.

Targeted ' Next-Generation ' Sequencing in Anophthalmia and Microphthalmia Patients Confirms SOX

J. Flannick, L. Tonkin, A. Slavotinek, 2019 .

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

J. Flannick, L. Tonkin, A. Slavotinek, 2011, BMC Medical Genetics.

Targeted ‘ Next-Generation ’ sequencing in anophthalmia and microphthalmia patients confirms SOX 2 , OTX 2 and FOXE 3 mutations

J. Flannick, L. Tonkin, A. Slavotinek, 2022 .

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia

S. Scherer, C. Marshall, T. Paton, 2017, American journal of medical genetics. Part A.

Chromosome 1p36 deletions

A. Slavotinek, 2003 .

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.

Josh Peterson, Katrina A B Goddard, Carol R Horowitz, 2019, American journal of human genetics.

Chromosome 1 p 36 deletions Author : Doctor

A. Verloes, A. Slavotinek, 2003 .

U. Hodoğlugil, A. Slavotinek, Monica Penon-Portmann, 2022, American journal of medical genetics. Part A.

S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome

Shenmin Zhang, Yiran Guo, A. Slavotinek, 2022, EMBO molecular medicine.

Challenges managing end‐stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease

A. Slavotinek, J. Brennan, A. Oates, 2016, Pediatric transplantation.

Case reports of oculofaciocardiodental syndrome with unusual dental findings (Am J Med Genet 136A: 275–277, 2005)

J. Johnston, A. Slavotinek, K. Vargervik, 2005, American journal of medical genetics. Part A.

A boy with severe manifestations of type A1 brachydactyly

A. Slavotinek, D. Donnai, 1998, Clinical dysmorphology.

A family with X‐linked anophthalmia: Exclusion of SOX3 as a candidate gene

S. Hamilton, A. Slavotinek, Stephen S. Lee, 2005, American journal of medical genetics. Part A.

Impact of the COVID‐19 pandemic on medical genetics and genomics training: Perspective from clinical trainees

A. Slavotinek, J. Chenbhanich, Allison Tam, 2022, American journal of medical genetics. Part A.

Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip

O. Klein, J. Pomerantz, A. Slavotinek, 2019, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Cleft lip with or without cleft palate: Frequency in different ethnic populations from the UCSF craniofacial clinic

R. Yeh, A. Slavotinek, K. Vargervik, 2007, American Journal of Medical Genetics. Part A.

Interstitial deletion of band 3q25.

S. Huson, A. Slavotinek, M. Fitchett, 1997, Journal of medical genetics.

A randomized controlled trial of levodopa in patients with Angelman syndrome

E. Weeber, A. Rotenberg, S. Skinner, 2018, American journal of medical genetics. Part A.

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment

N. Sobreira, M. Malloy, A. Slavotinek, 2017, American journal of medical genetics. Part A.

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

R. Weksberg, T. Meitinger, N. Boddaert, 2022, Human molecular genetics.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

Jill L. Maron, S. Kingsmore, Marilyn C. Jones, 2023, American journal of medical genetics. Part A.

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7—a review of eye anomalies in the linkeropathy syndromes

Mahim Jain, F. Scaglia, A. Slavotinek, 2016, American journal of medical genetics. Part A.

Acro‐dermato‐ungual‐lacrimal‐tooth (ADULT) syndrome: Report of a child with phenotypic overlap with ulnar‐mammary syndrome and a new mutation in TP63

M. Bamshad, A. Slavotinek, K. Vargervik, 2005, American journal of medical genetics. Part A.

Prenatal Diagnosis of Familial Type I Choledochal Cyst

R. Goldstein, A. Slavotinek, Hanmin Lee, 2006, Pediatrics.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, W. Chung, R. Møller, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Marinesco–Sjögren syndrome in a male with mild dysmorphism

S. Packman, H. Hoyme, M. Golabi, 2005, American journal of medical genetics. Part A.

Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment

M. Brin, A. Slavotinek, R. Kirby, 2023, Neurology.

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

L. Schmitt, A. Slavotinek, I. Riddle, 2023, Frontiers in Genetics.

Atrioventricular block and wiry hair in Teebi hypertelorism syndrome

A. Slavotinek, V. Cox, Xiao-Dong Han, 2006, American journal of medical genetics. Part A.

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

P. Kwok, M. Kvale, U. Hodoğlugil, 2023, NPJ genomic medicine.

Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry

P. Kwok, M. Kvale, U. Hodoğlugil, 2023, medRxiv.

Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74

U. Hodoğlugil, A. Slavotinek, Anne H Mardy, 2021, Clinical genetics.

Cost and Clinical Utility of WES and WGS in pediatric patients with suspected genetic disease

L. Hindorff, B. Gelb, M. P. Douglas, 2022, medRxiv.

Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing

J. Fish, O. Klein, A. Slavotinek, 2015, American journal of medical genetics. Part A.

Of brain and bone: The unusual case of Dr. A

B L Miller, K. Rankin, M. Gorno-Tempini, 2009, Neurocase.

Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?

J. Hurst, A. Slavotinek, M. Pike, 1996, American journal of medical genetics.

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

R. C. Green, R. Nussbaum, K. Ormond, 2021, BMC Medicine.

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

C. T. Morgan, Ravinesh A. Kumar, E. Simpson, 2007, BMC Medical Genetics.

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

H. M. Geller, W. Gahl, G. Golas, 2016, American journal of medical genetics. Part A.

Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature

A. Slavotinek, F. Lacbawan, 2003, Clinical Dysmorphology.

Three infants of diabetic mothers with malformations of left‐right asymmetry—further evidence for the aetiological role of diabetes in this malformation spectrum

J. Hurst, S. Huson, A. Slavotinek, 1996, Clinical dysmorphology.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Lisa A. Lansdon, O. Devinsky, R. Jech, 2023, American journal of human genetics.

US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER).

L. Hindorff, J. Berg, B. Gelb, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Clinical utility gene card for: Bardet–Biedl syndrome

P. Beales, A. Slavotinek, 2011, European Journal of Human Genetics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Michael F. Wangler, W. Chung, A. Fatemi, 2019, American journal of human genetics.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

O. Migita, C. Tifft, W. Gahl, 2021, Journal of Medical Genetics.

Fryns syndrome: a review of the phenotype and diagnostic guidelines.

A. Slavotinek, 2004 .

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation

A. Slavotinek, K. Vargervik, E. Hsieh, 2008, American journal of medical genetics. Part A.

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.

L. Hindorff, J. Berg, B. Gelb, 2023, Pediatrics.

Genetics in Pediatric Practice: From Baby Steps to Running Fast.

A. Slavotinek, Anne Slavotinek, 2023, Pediatric clinics of North America.

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.

M. Kennemer, C. Kautzer, R. Nussbaum, 2023, American journal of human genetics.

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.

J. Duncan, A. Slavotinek, Alejandra G. de Alba Campomanes, 2018, Retinal cases & brief reports.

Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome

A. Barkovich, P. Mukherjee, A. Slavotinek, 2007, American journal of medical genetics. Part A.

Beckwith-Wiedemann syndrome.

L. Gaunt, A. Read, A. Slavotinek, 1992, Journal of medical genetics.

KBG Syndrome: Report of Twins, Neurological Characteristics, and Delineation of Diagnostic Criteria

A. Slavotinek, K. Skjei, M. M. Martin, 2007 .

Erratum: Expanding the clinical spectrum associated with GLIS3 mutations (The Journal of Clinical Endocrinology & Metabolism (2015) 100:10 (E1362-E1369) DOI: 10.1210/jc.2015-1827)

A. Hattersley, S. Ellard, A. Slavotinek, 2015 .

Going forward in a new world

B. Solomon, A. Slavotinek, 2020, American journal of medical genetics. Part A.

Recurrent duplications of 17q12 associated with variable phenotypes

Tomas W. Fitzgerald, N. Carter, A. Alberti, 2015, American journal of medical genetics. Part A.

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies

D. Pinkel, A. J. Barkovich, D. Pinkel, 2005, Neurology.

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

J. Flannick, A. Slavotinek, E. Sherr, 2011, BMC Medical Genetics.

Targeted 'next-generation' Sequencing in Anophthalmia and Microphthalmia Patients Confirms Sox2, Otx2 and Foxe3 Mutations Targeted 'next-generation' Sequencing in Anophthalmia and Microphthalmia Patients Confirms Sox2, Otx2 and Foxe3 Mutations

J. Flannick, A. Slavotinek, E. Sherr, 2022 .

Eye development genes and known syndromes.

A. Slavotinek, 2011, Molecular genetics and metabolism.

G. Mortier, R. Hennekam, G. Nürnberg, 2007, American journal of human genetics.

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

B. Gelb, C. Stratakis, M. Tartaglia, 2005, Journal of Medical Genetics.

Predicting genes from phenotypes using human phenotype ontology (HPO) terms

M. Kvale, Shannon Rego, A. Slavotinek, 2022, Human Genetics.

Hypodontia in Beare-Stevenson Syndrome: An Example of Dental Anomalies in FGFR-Related Craniosynostosis Syndromes

A. Slavotinek, K. Vargervik, S. Oberoi, 2009, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Uniparental Disomy

A. Slavotinek, D. Siegel, 2005, Pediatric dermatology.

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia

A. Slavotinek, K. Vargervik, S. Shankar, 2010, American journal of medical genetics. Part A.

G. Mortier, D. Fitzpatrick, R. Hennekam, 2007, American journal of human genetics.

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease Authors

E. Giannoulatou, S. Dunwoodie, A. Slavotinek, 2019 .

Title Targeted next-generation sequencing in anophthalmia and microphthalmia patients confirms

J. Flannick, A. Slavotinek, E. Sherr, 2022 .