Arjan M. De Brouwer

Nijmegen, GE 6500HB, Netherlands

Last Updated: 09/26/2026

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Found 72 publications

Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.

Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.

Journal: Stem cell research

Published: April 08, 2024

Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9.

Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9.

Journal: Stem cell research

Published: April 08, 2024

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Journal: American journal of medical genetics. Part A

Published: May 05, 2022

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Journal: Genes

Published: November 19, 2021

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

Journal: Nature communications

Published: September 17, 2021

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 19, 2021

Intellectual disability genomics: current state, pitfalls and future challenges.

Intellectual disability genomics: current state, pitfalls and future challenges.

Journal: BMC genomics

Published: June 15, 2021

Response to Riccardi et al.

Response to Riccardi et al.

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

Published: April 12, 2021

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.

Journal: Journal of medical genetics

Published: November 05, 2020

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.

Journal: Human molecular genetics

Published: October 23, 2020

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

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

Published: July 21, 2020

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

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

Published: June 19, 2020

Showing 1-12 of 72

Last Updated: 09/26/2026