Maarten Kooyman

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 20 publications

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.

Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2026

CYP2D6 variants in amyotrophic lateral sclerosis: an association study of risk and survival.

CYP2D6 variants in amyotrophic lateral sclerosis: an association study of risk and survival.

Journal: Brain : a journal of neurology
Published: September 22, 2025

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

Journal: Nature genetics
Published: August 15, 2025

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.

Journal: Brain communications
Published: May 01, 2025

SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.

SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.

Journal: Cell reports methods
Published: October 17, 2024

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.

Journal: Circulation
Published: October 11, 2024

Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.

Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.

Journal: Nature genetics
Published: December 06, 2023

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Journal: Nature genetics
Published: February 01, 2022

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Journal: Nature genetics
Published: March 12, 2021

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

Journal: Nature genetics
Published: January 26, 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Journal: Neuron
Published: December 21, 2017

Reconsidering the causality of TIA1 mutations in ALS.

Reconsidering the causality of TIA1 mutations in ALS.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: December 14, 2017
Showing 1-12 of 20

Last Updated: 09/26/2026