List of works - Eric Hennekam

A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function

scientific article (publication date: April 2012)

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

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

scientific journal article

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

scientific article

Familial clustering of schizophrenia, bipolar disorder, and major depressive disorder

scientific article published on 5 January 2012

Genetic overlap between apparently sporadic motor neuron diseases

scientific article

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.

scientific article published in June 2004

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

scientific article published on 13 January 2013

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

scientific article published on August 2017

Mortality Risk Associated With Truncating Founder Mutations in Titin

scientific article published on 01 May 2019

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

scientific article

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

scientific article

Parental age and the risk of amyotrophic lateral sclerosis

scientific article published on 14 November 2012

Paternal age and psychiatric disorders: findings from a Dutch population registry

scientific article

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

scientific article

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

scientific article

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

scientific article published on 23 October 2017

List of works by Eric Hennekam

A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

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

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

Familial clustering of schizophrenia, bipolar disorder, and major depressive disorder

Genetic overlap between apparently sporadic motor neuron diseases

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.

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

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

Mortality Risk Associated With Truncating Founder Mutations in Titin

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

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

Parental age and the risk of amyotrophic lateral sclerosis

Paternal age and psychiatric disorders: findings from a Dutch population registry

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

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

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy