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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

American journal of human genetics, 2015-08, Vol.97 (2), p.343-352

2015

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Nature communications, 2018-11, Vol.9 (1), p.4619-12, Article 4619

2018

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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Nature genetics, 2015-11, Vol.47 (11), p.1363-1369

2015

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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

American journal of human genetics, 2017-12, Vol.101 (6), p.1021-1033

2017

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

American journal of human genetics, 2020-07, Vol.107 (1), p.164-172

2020

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

American journal of human genetics, 2021-02, Vol.108 (2), p.346-356

2021

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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

American journal of human genetics, 2016-09, Vol.99 (3), p.683-694

2016

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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

American journal of human genetics, 2016-02, Vol.98 (2), p.373-381

2016

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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American journal of human genetics, 2019-08, Vol.105 (2), p.403-412

2019

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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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Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

Journal of medical genetics, 2016-11, Vol.53 (11), p.735-742

2016

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Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

American journal of human genetics, 2015-04, Vol.96 (4), p.555-564

2015

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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.669-679

2017

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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

Genetics in medicine, 2023-08, Vol.25 (8), p.100856-100856, Article 100856

2023

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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Journal of medical genetics, 2014-12, Vol.51 (12), p.806-813

2014

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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.862-876

2018

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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

Human molecular genetics, 2017-02, Vol.26 (3), p.519-526

2017

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A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Journal of medical genetics, 2016-08, Vol.53 (8), p.523-532

2016

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Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Human molecular genetics, 2016-06, Vol.25 (11), p.2158-2167

2016

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Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.21-29

2016

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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2681-2693

2016

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

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

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype

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