Author details

Full Name

Gert-Jan B van Ommen

Affiliation

ORCID

Career Start Year

1974

Papers

426

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
31371789	Meeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea.	Eur J Hum Genet	2020
31370887	Meeting report: the Human Genome Meeting (HGM) 2019 in Seoul, Korea.	Hum Genomics	2019
30499696	Role of Academic Biobanks in Public-Private Partnerships in the European Biobanking and BioMolecular Resources Research Infrastructure Community.	Biopreservation and Biobanking	2019
30342241	Transnational access to large prospective cohorts in Europe: Current trends and unmet needs.	New Biotechnology	2019
31125048	Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics.	Endocrinology	2019
29359962	Enhancing Reuse of Data and Biological Material in Medical Research: From FAIR to FAIR-Health.	Biopreserv Biobank	2018
28322270	Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease.	Sci Rep	2017
28986739	Chronic disease research in Europe and the need for integrated population cohorts.	European Journal of Epidemiology	2017
28488676	Introduction to the first ESHG/EJHG Anniversary issue.	European Journal of Human Genetics	2017
28570578	Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates.	PLoS One	2017
27928158	25 years of the EJHG!	European Journal of Human Genetics	2016
26919047	The Implicitome: A Resource for Rationalizing Gene-Disease Associations.	PLoS One	2016
26916109	Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.	Genome Res	2016
26912635	Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.	Brain	2016
26825711	Uncompromised 10-year survival of oldest old carrying somatic mutations in DNMT3A and TET2.	Blood	2016
26779178	The Complete Genome Sequence of the Murine Pathobiont Helicobacter typhlonius.	Front Microbiol	2016
27708267	A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.	Nat Commun	2016
27524956	Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington's disease peripheral blood samples.	Metabolomics	2016
25227141	The dystrophin gene and cognitive function in the general population.	Eur J Hum Genet	2015
25883321	Characteristics of de novo structural changes in the human genome.	Genome Res	2015
25751400	Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.	Nat Commun	2015
25626709	Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.	Eur J Hum Genet	2015
25407005	BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres.	European Journal of Human Genetics	2015
25294428	Selection and characterization of llama single domain antibodies against N-terminal huntingtin.	Neurol Sci	2015
26566388	IL7R gene expression network associates with human healthy ageing.	Immunity and Ageing	2015
26320104	Akkermansia muciniphila and Helicobacter typhlonius modulate intestinal tumor development in mice.	Carcinogenesis	2015
26048046	The Pathogenesis and Therapy of Muscular Dystrophies.	Annu Rev Genomics Hum Genet	2015
25985141	Genome-wide patterns and properties of de novo mutations in humans.	Nat Genet	2015
26068415	Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.	Nat Commun	2015
24691207	Targeting TGF-Î² Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-Î² Type I Receptor.	Mol Ther Nucleic Acids	2014
25315204	Roux-en-Y gastric bypass surgery, but not calorie restriction, reduces plasma branched-chain amino acids in obese women independent of weight loss or the presence of type 2 diabetes.	Diabetes Care	2014
24380395	Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification.	Nucleic Acid Ther	2014
23714750	The Genome of the Netherlands: design, and project goals.	Eur J Hum Genet	2014
25099943	Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.	Diabetologia	2014
23717208	Human papillomavirus (HPV) upregulates the cellular deubiquitinase UCHL1 to suppress the keratinocyte's innate immune response.	PLoS Pathogens	2013
23818875	DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.	PLoS Genet	2013
24037425	Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.	Nat Biotechnol	2013
24037378	Transcriptome and genome sequencing uncovers functional variation in humans.	Nature	2013
23985338	Familial resemblance for serum metabolite concentrations.	Twin Research and Human Genetics	2013
24182360	Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs.	Twin Res Hum Genet	2013
23594916	EJHG to follow variation nomenclature and stimulate data reporting.	European Journal of Human Genetics	2013
23522924	Patients would benefit from simplified ethical review and consent procedure.	Lancet Oncol	2013
23468643	Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.	PLoS Genet	2013
23340324	Inhibition of IL-1 Signaling by Antisense Oligonucleotide-mediated Exon Skipping of IL-1 Receptor Accessory Protein (IL-1RAcP).	Mol Ther Nucleic Acids	2013
23622373	Innovating therapies for muscle diseases.	Handbook of Clinical Neurology	2013
23460734	Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice.	FASEB J	2013
23659897	Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon.	Neurobiol Dis	2013
23369867	Advances in therapeutic RNA-targeting.	New Biotechnology	2013
22247756	Transcriptional profiling of human familial longevity indicates a role for ASF1A and IL7R.	PLoS ONE	2012
22850064	A novel and fast normalization method for high-density arrays.	Statistical Applications in Genetics and Molecular Biology	2012