Radek Szklarczyk

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 28 publications

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Journal: NPJ genomic medicine

Published: May 06, 2021

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.

Journal: Molecular genetics & genomic medicine

Published: September 09, 2019

CiliaCarta: An integrated and validated compendium of ciliary genes.

CiliaCarta: An integrated and validated compendium of ciliary genes.

Journal: PloS one

Published: October 17, 2018

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Journal: Frontiers in genetics

Published: April 03, 2018

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

Journal: Frontiers in molecular neuroscience

Published: August 01, 2017

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Journal: European journal of human genetics : EJHG

Published: December 20, 2016

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

Journal: The Journal of pediatrics

Published: August 19, 2016

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Journal: Frontiers in neurology

Published: August 04, 2016

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Journal: Disease models & mechanisms

Published: July 08, 2016

A comprehensive strategy for exome-based preconception carrier screening.

A comprehensive strategy for exome-based preconception carrier screening.

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

Published: June 16, 2016

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Journal: BMC systems biology

Published: February 14, 2016

Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response.

Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response.

Journal: PLoS computational biology

Published: September 03, 2015

Showing 1-12 of 28

Last Updated: 09/26/2026