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Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Nature genetics, 2017-11, Vol.49 (11), p.1642-1646

2017

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Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Journal of medical genetics, 2018-11, Vol.55 (11), p.753-764

2018

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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2879-2894

2017

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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

American journal of human genetics, 2019-01, Vol.104 (1), p.139-156

2019

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Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Neurogenetics, 2016-07, Vol.17 (3), p.159-164

2016

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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Brain (London, England : 1878), 2017-08, Vol.140 (8), p.2093-2103

2017

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Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges

Journal of child neurology, 2017-05, Vol.32 (6), p.543-549

2017

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Phenotype delineation of ZNF462 related syndrome

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2075-2082

2019

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

European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.210-219

2018

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Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Journal of neurogenetics, 2017-04, Vol.31 (1-2), p.30-36

2017

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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Brain (London, England : 1878), 2018-08, Vol.141 (8), p.2299-2311

2018

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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3051-3062

2015

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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

American journal of human genetics, 2019-08, Vol.105 (2), p.283-301

2019

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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

American journal of human genetics, 2017-08, Vol.101 (2), p.300-310

2017

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Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

American journal of human genetics, 2012-03, Vol.90 (3), p.426-433

2012

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Hippocampal Nabeta3 expression in patients with temporal lobe epilepsy

Epilepsia (Copenhagen), 2009-04, Vol.50 (4), p.957-962

2009

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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

American journal of human genetics, 2019-01, Vol.104 (1), p.164-178

2019

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

American journal of human genetics, 2024-08, Vol.111 (8), p.1605-1625

2024

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Genetics in medicine, 2019-08, Vol.21 (8), p.1797-1807

2019

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

American journal of human genetics, 2020-03, Vol.106 (3), p.405-411

2020

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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Science advances, 2019-09, Vol.5 (9), p.eaax2166-eaax2166

2019

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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges

Phenotype delineation of ZNF462 related syndrome

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

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

Hippocampal Nabeta3 expression in patients with temporal lobe epilepsy

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

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