Eric M. Hennekam

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 14 publications

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.

Journal: Kidney international

Published: September 28, 2022

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.

Journal: Journal of human genetics

Published: March 14, 2022

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.

Journal: The Journal of experimental medicine

Published: August 06, 2021

Mortality Risk Associated With Truncating Founder Mutations in Titin.

Mortality Risk Associated With Truncating Founder Mutations in Titin.

Journal: Circulation. Genomic and precision medicine

Published: May 22, 2019

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

Journal: Rheumatology (Oxford, England)

Published: June 03, 2015

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

Journal: The Journal of clinical investigation

Published: May 19, 2015

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: September 22, 2014

Parental age and the risk of amyotrophic lateral sclerosis.

Parental age and the risk of amyotrophic lateral sclerosis.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: November 16, 2012

Genetic overlap between apparently sporadic motor neuron diseases.

Genetic overlap between apparently sporadic motor neuron diseases.

Journal: PloS one

Published: September 05, 2012

Increased paternal age and the influence on burden of genomic copy number variation in the general population.

Increased paternal age and the influence on burden of genomic copy number variation in the general population.

Journal: Human genetics

Published: August 29, 2012

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

Journal: Human molecular genetics

Published: May 31, 2012

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

Journal: Journal of medical genetics

Published: May 15, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026