K. Anyane-Yeboa

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

W. Chung, I. Krantz, P. Hulick, 2019, European Journal of Human Genetics.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.

B. Tycko, L. Weiss, L. Weiss, 1997, American journal of human genetics.

FTO variant associated with malformation syndrome

M. Ganapathi, K. Anyane-Yeboa, E. Guzmán, 2016, American journal of medical genetics. Part A.

Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome.

W. Chung, W. Gersony, C. Stolar, 2008, Archives of pediatrics & adolescent medicine.

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

V. Jobanputra, D. Warburton, B. Levy, 2011, American journal of medical genetics. Part A.

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

J. Graham, A. Raams, W. Kleijer, 2001, American journal of human genetics.

Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).

K. Anyane-Yeboa, S. Jaramillo, C. Nagel, 1985, American journal of medical genetics.

Impact of patient education videos on genetic counseling outcomes after exome sequencing.

W. Chung, P. Appelbaum, J. Wynn, 2020, Patient education and counseling.

Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.

K. Anyane-Yeboa, E. Guzmán, R. Hirschhorn, 2002, American journal of human genetics.

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

E. Roeder, A. Vanderver, M. Tartaglia, 2022, American Journal of Neuroradiology.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Saskia M. J. Hopman, R. Pfundt, E. van Binsbergen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

R. Deberardinis, S. Blaser, A. Poduri, 2018, American journal of medical genetics. Part A.

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation

Preti Jain, J. Picoraro, K. Anyane-Yeboa, 2016, Journal of pediatric hematology/oncology.

Cutis Verticis Gyrata in a Patient with Noonan Syndrome

K. Anyane-Yeboa, L. Fox, M. Garzon, 2005, Pediatric dermatology.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

J. Rosenfeld, B. D. de Vries, W. Chung, 2016, Genetics in Medicine.

Clinical Spectrum of Capillary Malformation–Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study

P. Meyers, J. Kandel, M. Garzón, 2015, Pediatric dermatology.

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

I. Krantz, D. Fitzpatrick, S. Banka, 2022, Brain : a journal of neurology.

Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia.

T. Rosen, K. Anyane-Yeboa, M. Grossman, 1988, American journal of medical genetics.

Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation.

K. Anyane-Yeboa, W. Kupsky, J. Maidman, 1987, American journal of medical genetics.

Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome?

K. Anyane-Yeboa, P. Taterka, A. Merkrebs, 1983, The Cleft palate journal.

Retinoblastoma Presenting in a Child with Hypomelanosis of Ito

R. Folberg, M. Chiang, Lingmin He, 2011, The open ophthalmology journal.

Baller‐Gerold syndrome Craniosynostosis‐radial aplasia syndrome

K. Anyane-Yeboa, A. D. Bloom, L. Gunning, 1980, Clinical genetics.

DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

R. Fletterick, R. Pagon, M. Genel, 1998, American journal of human genetics.

New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation

S. Zha, M. Mansukhani, K. Anyane-Yeboa, 2017, Journal of Human Genetics.

Variants in STXBP3 Are Associated With Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Noor B. Dawany, W. Chung, J. Kelsen, 2021, Journal of Crohn's & colitis.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

B. Yamrom, J. Kendall, A. Leotta, 2013, Human Genetics.

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

R. Kucherlapati, S. Weissman, R. Shprintzen, 1997, American journal of human genetics.

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

J. Sebat, J. Troge, V. Jobanputra, 2005, Genetics in Medicine.

Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

J. Fryns, U. Froster-Iskenius, T. Glover, 1991, American journal of medical genetics.

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

K. Anyane-Yeboa, D. Warburton, S. Gersen, 1993, American journal of medical genetics.

Herrmann-Opitz syndrome: report of an affected fetus.

K. Anyane-Yeboa, J. Kasznica, J. Maidman, 1987, American journal of medical genetics.

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

L. Shaffer, J. Lupski, W. Meschino, 2000, Nature Genetics.

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture.

K. Anyane-Yeboa, S. Brown, Stephen Brown, 1995, American journal of medical genetics.

Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases.

U. Francke, K. Anyane-Yeboa, D. Warburton, 1987, American journal of medical genetics.

Chapter 17 – The Genetics of Fetal and Neonatal Cardiovascular Disease

W. Chung, M. Brueckner, M. Boskovski, 2012 .

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies

V. Jobanputra, B. Levy, K. Anyane-Yeboa, 2013, American journal of medical genetics. Part A.

Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series

D. Goldstein, S. Petrovski, V. Aggarwal, 2017, American journal of medical genetics. Part A.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

N. Boddaert, M. Reuter, P. Koty, 2014, Human Genetics.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

The usefulness of whole-exome sequencing in routine clinical practice

Julia Wynn, Wendy K. Chung, W. Chung, 2014, Genetics in Medicine.

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

Xiang Li, W. Chung, A. Sepulveda, 2015, Fetal Diagnosis and Therapy.

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

V. Jobanputra, D. Goldstein, S. Petrovski, 2019, The Lancet.

Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.

A. Gharavi, R. Wapner, K. Anyane-Yeboa, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

W. Chung, Z. Valivullah, K. Anyane-Yeboa, 2019, Cold Spring Harbor molecular case studies.

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

P. Appelbaum, J. Wynn, R. Ottman, 2018, Clinical genetics.

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

K. Anyane-Yeboa, K. Glassberg, L. Tuzovic, 2014, Fetal Diagnosis and Therapy.

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase

V. Jobanputra, I. Fennoy, K. Anyane-Yeboa, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

Sibel Kantarci, Carrie Sougnez, Eli Hatchwell, 2010, American journal of medical genetics. Part A.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

V. Jobanputra, A. Christiano, B. Levy, 2014, PLoS genetics.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

W. Chung, I. Krantz, P. Hulick, 2019, European Journal of Human Genetics.

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

D. Goldstein, K. Roche, J. Baptista, 2021, Genetics in Medicine.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

W. Chung, J. Wisoff, B. Kohn, 2019, The Journal of clinical endocrinology and metabolism.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

P. Byers, K. Conneely, G. Pals, 2013, Human molecular genetics.

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2021, Human mutation.

Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate‐2‐sulfatase gene

R. Anderson, E. Aronovich, C. Whitley, 1993, Human mutation.

Lumbar gibbus in storage diseases and bone dysplasias

W. Berdon, C. Ruzal-Shapiro, K. Anyane-Yeboa, 1997, Pediatric Radiology.

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

P. Kruszka, M. Muenke, K. Weiss, 2019, American journal of human genetics.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Y. Wada, E. Schaftingen, S. Mahmood, 2013, American journal of human genetics.

Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?

K. Anyane-Yeboa, D. Warburton, C. Yu, 1991, Annales de genetique.

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

L. Clark, Jonathan T. Lu, G. Gundersen, 2016, Journal of Cell Science.

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling

V. Jobanputra, D. Warburton, B. Levy, 2009, American journal of medical genetics. Part A.

Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

V. Aggarwal, K. Anyane-Yeboa, L. Northrop, 2014, Journal of Clinical Immunology.

Calcium Ionophore-Induced Degradation of Neurofilament and Cell Death in MSN Neuroblastoma Cells

F. Chiu, K. Anyane-Yeboa, E. Runko, 1998, Neurochemical Research.

Networks of Attention in Children With the 22q11 Deletion Syndrome

Christina Sobin, Sarah Daniels, Maria Karayiorgou, 2004, Developmental neuropsychology.

Molecular diagnostic dilemmas in Rett syndrome

K. Anyane-Yeboa, Ashley L. Wilson, D. Rita, 2012, Brain and Development.

Newborn screening for hemoglobinopathies: the benefit beyond the target.

K. Anyane-Yeboa, R. Grover, D. Wethers, 1986, American journal of public health.

3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities

V. Jobanputra, B. Levy, K. Anyane-Yeboa, 2022, Molecular cytogenetics.

3q27.1 Microdeletion Causes a Clinically Recognizable Syndrome Characterized by Severe Prenatal and Postnatal Growth Restriction and Neurodevelopmental Abnormalities

V. Jobanputra, B. Levy, K. Anyane-Yeboa, 2021 .

CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

Jocelyn T. Compton, E. Bacha, P. Meyers, 2012, Vascular cell.

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

A. Bayat, S. Srivastava, S. McKee, 2022, American journal of medical genetics. Part A.

COVID-19’s Impact on Genetics at One Medical Center in New York

W. Chung, R. Wapner, E. Griffin, 2020, Genetics in Medicine.

Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging

A. Bilgili, I. Tuna, K. Anyane-Yeboa, 2022, Cureus.

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

M. Roig, K. Anyane-Yeboa, R. Hirschhorn, 2002, Neuromuscular Disorders.

Dominant inheritance of bifid nose.

M. Berant, K. Anyane-Yeboa, H. Travers, 1984, American journal of medical genetics.

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

V. Jobanputra, V. D’Agati, S. Zacharoulis, 2022, Kidney international reports.

NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22Q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS

M. Karayiorgou, C. Sobin, M. Blundell, 2005, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

V. Jobanputra, K. Anyane-Yeboa, Ashley L. Wilson, 2015, American journal of medical genetics. Part A.

De novo mutations in PURA are associated with hypotonia and developmental delay

Wendy K. Chung, W. Chung, K. Retterer, 2015, Cold Spring Harbor molecular case studies.

Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

V. Aggarwal, P. Nagy, K. Anyane-Yeboa, 2014, Journal of Clinical Immunology.

Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: A new genetic syndrome?

K. Anyane-Yeboa, M. P. Gallagher, S. Oberfield, 2003, American journal of medical genetics. Part A.

Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.

A. Christiano, A. Martinez-Mir, P. Cserhalmi-Friedman, 2001, The Journal of investigative dermatology.

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa

P. Cserhalmi-Friedman, K. Anyane-Yeboa, A. Christiano, 2002, Experimental Dermatology.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

N. Boddaert, M. Reuter, P. Koty, 2014, Human Genetics.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome

P. Ahimaz, K. Anyane-Yeboa, R. Hernan, 2022, American journal of medical genetics. Part A.

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

R. Wapner, Marisa Censani, K. Anyane-Yeboa, 2013, International Journal of Pediatric Endocrinology.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

B. Yamrom, J. Kendall, A. Leotta, 2013, Human Genetics.