Michael P. Kwint

Nijmegen, GE 6500HE, Netherlands

Last Updated: 09/26/2026

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Found 30 publications

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Journal: American journal of human genetics

Published: December 11, 2025

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

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

Published: September 17, 2025

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Journal: HGG advances

Published: January 09, 2025

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.

Journal: Genome research

Published: September 24, 2024

A proteogenomic atlas of the human neural retina.

A proteogenomic atlas of the human neural retina.

Journal: Frontiers in genetics

Published: June 18, 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

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.

Journal: Cells

Published: September 29, 2022

Comprehensive de novo mutation discovery with HiFi long-read sequencing.

Comprehensive de novo mutation discovery with HiFi long-read sequencing.

Journal: Genome medicine

Published: August 26, 2022

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: June 07, 2022

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

Journal: Journal of the American Society of Nephrology : JASN

Published: May 30, 2022

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.

Journal: Stem cell research

Published: December 29, 2021

RNA Sequencing Elucidates Drug-Specific Mechanisms of Antibiotic Tolerance and Resistance in Mycobacterium abscessus.

RNA Sequencing Elucidates Drug-Specific Mechanisms of Antibiotic Tolerance and Resistance in Mycobacterium abscessus.

Journal: Antimicrobial agents and chemotherapy

Published: October 11, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026