Anneke T. Van Silfhout-Vulto

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 53 publications

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome.

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome.

Journal: Kidney international reports

Published: June 25, 2025

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.

Journal: NPJ genomic medicine

Published: November 12, 2024

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 29, 2024

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

Journal: Human molecular genetics

Published: July 08, 2024

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Journal: Annals of neurology

Published: March 09, 2024

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

Journal: Clinical genetics

Published: February 22, 2024

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

Journal: Nature medicine

Published: May 26, 2023

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Journal: Science advances

Published: May 01, 2023

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 06, 2023

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.

Journal: Nature genetics

Published: September 06, 2022

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 10, 2022

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 13, 2022

Showing 1-12 of 53

Last Updated: 09/26/2026