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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

American journal of human genetics, 2022-04, Vol.109 (4), p.587-600

2022

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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Journal of medical genetics, 2022-12, Vol.59 (12), p.1234

2022

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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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Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

Genes & diseases, 2024-11, Vol.11 (6), p.101130, Article 101130

2024

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ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.1001-1012

2021

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

American journal of human genetics, 2017-11, Vol.101 (5), p.768-788

2017

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Parallel derivation of isogenic human primed and naive induced pluripotent stem cells

Nature communications, 2018-01, Vol.9 (1), p.360-13, Article 360

2018

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Genetics in medicine, 2019-09, Vol.21 (9), p.2025-2035

2019

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

American journal of human genetics, 2017-02, Vol.100 (2), p.352-363

2017

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Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction

M.S. Médecine sciences, 2024-02, Vol.40 (2), p.176

2024

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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

American journal of human genetics, 2024-07, Vol.111 (7), p.1352-1369

2024

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Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Genetics in medicine, 2022-08, Vol.24 (8), p.1774-1780

2022

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Penetrance, variable expressivity and monogenic neurodevelopmental disorders

European journal of medical genetics, 2024-06, Vol.69, p.104932-104932, Article 104932

2024

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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in medicine, 2022-01, Vol.24 (1), p.179-191

2022

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Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in medicine, 2022-09, Vol.24 (9), p.1941-1951

2022

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

American journal of human genetics, 2017-04, Vol.100 (4), p.689-689

2017

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Parallel derivation of isogenic human primed and naive induced pluripotent stem cells

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Penetrance, variable expressivity and monogenic neurodevelopmental disorders

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Parallel derivation of isogenic human primed and naive induced pluripotent stem cells

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

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