M M. Motazacker

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 37 publications

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Journal: HGG advances

Published: January 17, 2026

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Journal: The Journal of clinical investigation

Published: September 11, 2025

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.

Journal: American journal of human genetics

Published: June 27, 2025

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

Journal: PLoS genetics

Published: December 23, 2024

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Journal: The Journal of clinical investigation

Published: July 08, 2024

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.

Journal: Neurology. Genetics

Published: April 30, 2024

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

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

Published: August 29, 2023

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Journal: The Journal of clinical investigation

Published: April 06, 2023

Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110.

Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110.

Journal: Leukemia

Published: March 18, 2022

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Journal: NPJ genomic medicine

Published: November 25, 2021

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Journal: Human reproduction (Oxford, England)

Published: May 27, 2021

Showing 1-12 of 37

Last Updated: 09/26/2026