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Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

Human mutation, 2019-12, Vol.40 (12), p.2286-2295

2019

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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Molecular psychiatry, 2019-11, Vol.24 (11), p.1748-1768

2019

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Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1569-1577

2019

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Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly

Human mutation, 2022-02, Vol.43 (2), p.189-199

2022

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Hypomorphic alleles pose challenges in rare disease genomic variant interpretation

Clinical genetics, 2021-12, Vol.100 (6), p.775-776

2021

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A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome

Cold Spring Harbor molecular case studies, 2018-06, Vol.4 (3), p.a002410

2018

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Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

Cytogenetic and genome research, 2017, Vol.152 (2), p.105-109

2017

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Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome

Cold Spring Harbor molecular case studies, 2021-12, Vol.7 (6), p.a006122

2021

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Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

Cold Spring Harbor molecular case studies, 2020-06, Vol.6 (3), p.a005306

2020

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Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2294-2299

2013

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Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant

Rheumatology (Oxford, England), 2022-12, Vol.62 (1), p.347-359

2022

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Cerebral organoids containing an AUTS2 missense variant model microcephaly

Brain (London, England : 1878), 2023-01, Vol.146 (1), p.387-404

2023

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Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling

Biological psychiatry (1969), 2019-06, Vol.87 (2), p.100-112

2019

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In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.a003160

2018

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Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree

Cold Spring Harbor molecular case studies, 2019-12, Vol.5 (6), p.a004176

2019

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In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.1

2018

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Hypomorphic alleles pose challenges in rare disease genomic variant interpretation

Clinical genetics, 2021, Vol.100 (6), p.775-776

2021

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Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly

Hypomorphic alleles pose challenges in rare disease genomic variant interpretation

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant

Cerebral organoids containing an AUTS2 missense variant model microcephaly

Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Hypomorphic alleles pose challenges in rare disease genomic variant interpretation

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