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Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

American journal of human genetics, 2014-08, Vol.95 (2), p.173-182

2014

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Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

American journal of human genetics, 2012-12, Vol.91 (6), p.1103-1107

2012

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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3618-3624

2013

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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American journal of human genetics, 2012-08, Vol.91 (2), p.358-364

2012

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Pathogenicity and selective constraint on variation near splice sites

Genome research, 2019-02, Vol.29 (2), p.159

2019

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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Genetics in medicine, 2021-07, Vol.23 (7), p.1202-1210

2021

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Genetics in medicine, 2021-02, Vol.23 (2), p.363-373

2021

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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Genetics in medicine, 2021-09, Vol.23 (9), p.1715-1725

2021

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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Human genetics, 2019-09, Vol.138 (8-9), p.1051-1069

2019

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Clinical and genetic aspects of KBG syndrome

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2835-2846

2016

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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Genetics in medicine, 2021-12, Vol.23 (12), p.2360-2368

2021

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Genetics in medicine, 2021-02, Vol.23 (2), p.384-395

2021

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1798-1809

2010

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Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

Human mutation, 2016-11, Vol.37 (11), p.1157-1161

2016

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Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

BMC medical genetics, 2016-11, Vol.17 (1), p.82-82, Article 82

2016

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White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene

Developmental medicine and child neurology, 2010-05, Vol.52 (5), p.475-482

2010

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TRPV4 axonal neuropathy spectrum disorder

Journal of clinical neuroscience, 2012-07, Vol.19 (7), p.927-933

McEntagart, Meriel

2012

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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

HGG advances, 2021-01, Vol.2 (1), p.100015-100015, Article 100015

2021

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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Neurology. Genetics, 2018-04, Vol.4 (2), p.e222-e222

2018

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Functional Analysis of Monocarboxylate Transporter 8 Mutations Identified in Patients with X-Linked Psychomotor Retardation and Elevated Serum Triiodothyronine

The journal of clinical endocrinology and metabolism, 2007-06, Vol.92 (6), p.2378-2381

2007

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Prevalence and architecture of de novo mutations in developmental disorders

Nature (London), 2017-02, Vol.542 (7642), p.433-438

2017

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

The Lancet (British edition), 2015-04, Vol.385 (9975), p.1305-1314

2015

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High on-clopidogrel platelet reactivity in ischaemic stroke or transient ischaemic attack: Systematic review and meta-analysis

Journal of stroke and cerebrovascular diseases, 2020-07, Vol.29 (7), p.104877-104877, Article 104877

2020

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Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Pathogenicity and selective constraint on variation near splice sites

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Clinical and genetic aspects of KBG syndrome

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene

TRPV4 axonal neuropathy spectrum disorder

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Functional Analysis of Monocarboxylate Transporter 8 Mutations Identified in Patients with X-Linked Psychomotor Retardation and Elevated Serum Triiodothyronine

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Prevalence and architecture of de novo mutations in developmental disorders

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

High on-clopidogrel platelet reactivity in ischaemic stroke or transient ischaemic attack: Systematic review and meta-analysis

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