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Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes

American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2789-2800

2021

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An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity

Human mutation, 2020-03, Vol.41 (3), p.600-607

2020

Volltextzugriff (PDF)

A genomics approach to females with infertility and recurrent pregnancy loss

Human genetics, 2020-05, Vol.139 (5), p.605-613

2020

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Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Nature genetics, 2011-12, Vol.43 (12), p.1186-1188

2011

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Clinical utility of polygenic scores for cardiometabolic disease in Arabs

Nature communications, 2023-10, Vol.14 (1), p.6535-6535, Article 6535

2023

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Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

Genome Biology, 2015-06, Vol.16 (1), p.116-116, Article 116

2015

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Congenital glaucoma and CYP1B1: an old story revisited

Human genetics, 2019-09, Vol.138 (8-9), p.1043-1049

2019

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Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

Genetics in medicine, 2017-05, Vol.19 (5), p.593-598

2017

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The genetic landscape of familial congenital hydrocephalus

Annals of neurology, 2017-06, Vol.81 (6), p.890-897

2017

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Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

Nature medicine, 2020-01, Vol.26 (1), p.98-109

2020

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Further delineation of SMG9‐related heart and brain malformation syndrome

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1624-1630

2021

Volltextzugriff (PDF)

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Genome research, 2013-02, Vol.23 (2), p.236

2013

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Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

The Journal of clinical investigation, 2024-01, Vol.134 (2), p.1-15

2024

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Molecular autopsy in maternal-fetal medicine

Genetics in medicine, 2018-04, Vol.20 (4), p.420-427

2018

Volltextzugriff (PDF)

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Genome Biology, 2020-06, Vol.21 (1), p.1-145, Article 145

2020

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MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

Human genetics, 2019-12, Vol.138 (11-12), p.1247-1257

2019

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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Brain (London, England : 1878), 2018-07, Vol.141 (7), p.1934-1945

2018

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Human ‘knockouts’ of CSF3 display severe congenital neutropenia

British journal of haematology, 2023-11, Vol.203 (3), p.477-480

2023

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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Journal of medical genetics, 2012-04, Vol.49 (4), p.234-241

2012

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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Brain (London, England : 1878), 2024-01, Vol.147 (1), p.311-324

2024

Volltextzugriff (PDF)

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Molecular psychiatry, 2023-02, Vol.28 (2), p.668-697

2023

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Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Genetics in medicine, 2017-10, Vol.19 (10), p.1144-1150

2017

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Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder

Clinical genetics, 2024-05, Vol.105 (5), p.488-498

2024

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Mitochondrial “dysmorphology” in variant classification

Human genetics, 2022, Vol.141 (1), p.55-64

2022

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PLXNA2 as a candidate gene in patients with intellectual disability

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3859-3865

2021

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Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes

An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity

A genomics approach to females with infertility and recurrent pregnancy loss

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Clinical utility of polygenic scores for cardiometabolic disease in Arabs

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

Congenital glaucoma and CYP1B1: an old story revisited

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

The genetic landscape of familial congenital hydrocephalus

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

Further delineation of SMG9‐related heart and brain malformation syndrome

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

Molecular autopsy in maternal-fetal medicine

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Human ‘knockouts’ of CSF3 display severe congenital neutropenia

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder

Mitochondrial “dysmorphology” in variant classification

PLXNA2 as a candidate gene in patients with intellectual disability

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