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Quantifying the contribution of recessive coding variation to developmental disorders

Science (American Association for the Advancement of Science), 2018-12, Vol.362 (6419), p.1161-1164

2018

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

American journal of human genetics, 2020-05, Vol.106 (5), p.596-610

2020

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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Nature communications, 2021-02, Vol.12 (1), p.833-13, Article 833

2021

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Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

Human molecular genetics, 2016-03, Vol.25 (5), p.927-935

2016

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980

2013

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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.240-243

2012

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Genetics in medicine, 2020-04, Vol.22 (4), p.822-822

2020

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Genotype-phenotype analysis of the branchio-oculo-facial syndrome

American journal of medical genetics. Part A, 2011-01, Vol.155A (1), p.22-32

2011

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A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome

American journal of human genetics, 2002-04, Vol.70 (4), p.1034-1037

2002

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

American journal of medical genetics. Part A, 2006-11, Vol.140A (22), p.2416-2425

2006

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Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

Wellcome open research, 2019, Vol.4, p.149-149

2019

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Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24

American journal of human genetics, 2000-08, Vol.67 (2), p.498-503

2000

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X-linked situs abnormalities result from mutations in ZIC3

Nature genetics, 1997-11, Vol.17 (3), p.305-308

1997

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A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?

Clinical dysmorphology, 2012-01, Vol.21 (1), p.33

2012

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Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

Nature genetics, 1998-10, Vol.20 (2), p.149-156

1998

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Mosaicism in Hartsfield syndrome

European journal of medical genetics, 2022-05, Vol.65 (5), p.104491-104491, Article 104491

2022

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Fetal hydrops: diagnosis and prognosis

Archives of disease in childhood, 2019-03, Vol.104 (3), p.209

2019

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Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences

British journal of psychiatry, 2021-06, Vol.218 (6), p.315-322

2021

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SET de novo frameshift variants associated with developmental delay and intellectual disabilities

European journal of human genetics : EJHG, 2018-09, Vol.26 (9), p.1306-1311

2018

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

American journal of human genetics, 2014-05, Vol.94 (5), p.734-744

2014

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668

2014

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Quantifying the contribution of recessive coding variation to developmental disorders

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome

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

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24

X-linked situs abnormalities result from mutations in ZIC3

A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

Mosaicism in Hartsfield syndrome

Fetal hydrops: diagnosis and prognosis

Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

The Phenotypic Continuum of ATP1A3 -Related Disorders

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

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