Maartje Pennings

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 30 publications

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 27, 2026

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort.

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 23, 2025

Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.

Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.

Journal: European journal of human genetics : EJHG

Published: December 12, 2024

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Journal: European journal of human genetics : EJHG

Published: April 26, 2024

Optical genome mapping enables accurate testing of large repeat expansions.

Optical genome mapping enables accurate testing of large repeat expansions.

Journal: Genome research

Published: April 19, 2024

A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.

A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 19, 2024

Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and otter.

Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and otter.

Journal: Genome research

Published: March 15, 2024

Genetic characterization of primary lateral sclerosis.

Genetic characterization of primary lateral sclerosis.

Journal: Journal of neurology

Published: February 08, 2023

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

Journal: European journal of human genetics : EJHG

Published: July 18, 2022

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

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

Published: May 06, 2022

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

Journal: Journal of neurology

Published: May 05, 2022

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Journal: Genome medicine

Published: December 20, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026