C. V. Diemen

发表

Participation in interdisciplinary meetings on genetic diagnostics (NGS)

T. Koole, Lotte van Burgsteden, P. Harms, 2017, European Journal of Human Genetics.

Detecting shared pathogenesis from the shared genetics of immune-related diseases

A. Zhernakova, C. Wijmenga, C. V. Diemen, 2009, Nature Reviews Genetics.

University of Groningen Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis Deelen,

M. Swertz, R. Sinke, J. Karjalainen, 2019 .

variant at 19 q 13 . 2 in relation with DNA methylation and gene expression

A. Uitterlinden, M. Obeidat, Y. Bossé, 2018 .

Cell-Derived Gut Plasmablasts Restricted IgA Repertoire in Both B-1 and B-2

C. V. Diemen, J. Cebra, Han-Qing Jiang, 2011 .

204 Genetic and Mucosal Expression Analysis Shows Important Roles for JAK2 and MST1 in the Pathogenesis of Ulcerative Colitis and Identifies More Susceptibility Loci

C. Wijmenga, K. Faber, H. Boezen, 2009 .

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

Cleo C. van Diemen, Birgit Sikkema-Raddatz, Kristin M. Abbott, 2019, Genome Medicine.

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

Cleo C. van Diemen, Birgit Sikkema-Raddatz, Kristin M. Abbott, 2019, Advanced genetics.

Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC 2

R. Alberts, A. Franke, Patrick Deelen, 2016 .

ADAM 33 Gene Polymorphisms and Mortality . A Prospective Cohort Study

D. Postma, J. Vonk, H. Boezen, 2013 .

Genetics of lung function decline and COPD development

C. V. Diemen, 2008 .

A disintegrin and metalloprotease 33 polymorphisms and lung function decline in the general population.

D. Postma, J. Vonk, H. Boezen, 2005 .

Genetic Analysis in A Dutch Study Sample Identifies More Ulcerative Colitis Susceptibility Loci and Shows Their Additive Role in Disease Risk

Cleo C. van Diemen, C. Wijmenga, H. Boezen, 2010, The American Journal of Gastroenterology.

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

Tariq Ahmad, Sarah Edkins, Christopher G Mathew, 2011, Nature Genetics.

Title: Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics Running head: Cas9-directed LRS to resolve OGM findings

N. Knoers, C. V. Diemen, B. Sikkema-Raddatz, 2023 .

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Sarah Edkins, Cisca Wijmenga, Lude Franke, 2011, Nature Genetics.

Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

A. Zhernakova, C. Wijmenga, H. Boezen, 2008, American journal of human genetics.

A cross-omics integrative study of metabolic signatures of chronic obstructive pulmonary disease

V. Salomaa, M. Perola, Jingyuan Fu, 2020, BMC Pulmonary Medicine.

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Birgit Sikkema-Raddatz, Kristin M. Abbott, Alain Knopperts, 2017, Genome Biology.

Novel strategy to identify genetic risk factors for COPD severity: a genetic isolate

D. Postma, H. Boezen, C. V. van Duijn, 2009, European Respiratory Journal.

Common Variants in the Type 2 Diabetes KCNQ1 Gene Are Associated with Impairments in Insulin Secretion During Hyperglycaemic Glucose Clamp

C. Wijmenga, D. van der A, H. Boezen, 2012, PloS one.

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

C. Wijmenga, M. Rewers, H. Boezen, 2013, Gut.

Limited overlap in significant hits between genome-wide association studies on two airflow obstruction definitions in the same population

Y. Bossé, K. Hao, D. Postma, 2019, BMC Pulmonary Medicine.

Restricted IgA Repertoire in Both B-1 and B-2 Cell-Derived Gut Plasmablasts1

C. V. Diemen, C. V. van Diemen, F. Kroese, 2005, The Journal of Immunology.

Long-term Air Pollution Exposure, Genome-wide DNA Methylation and Lung Function in the LifeLines Cohort Study

C. Ward‐Caviness, M. Waldenberger, A. Peters, 2018, Environmental health perspectives.

INFLAMMATORY BOWEL DISEASE Genetic Analysis in A Dutch Study Sample Identifi es More Ulcerative Colitis Susceptibility Loci and Shows Their Additive Role in Disease Risk

C. Wijmenga, D. Hommes, A. Franke, 2010 .

Superoxide dismutases, lung function and bronchial responsiveness in a general population

D. Postma, J. Vonk, H. Boezen, 2009, European Respiratory Journal.

Genetic variation in TIMP1 but not MMPs predict excess FEV1 decline in two general population-based cohorts

H. Boezen, H. Boezen, A. Blokstra, 2011, Respiratory research.

Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.

Cisca Wijmenga, Lude Franke, Pieter Zanen, 2010, Human molecular genetics.

A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

L. Morssink, C. V. Diemen, W. S. Kerstjens-Frederikse, 2020 .

Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics

A. Uitterlinden, J. V. van Meurs, M. Obeidat, 2018, European Journal of Human Genetics.

Limited Evidence for Parent-of-Origin Effects in Inflammatory Bowel Disease Associated Loci

Jingyuan Fu, I. Nolte, R. Weersma, 2012 .

Paediatric cardiomyopathies

M. Swertz, R. Sinke, L. Franke, 2022 .

Occupational exposure to pesticides is associated with differential DNA methylation

D. Postma, J. Vonk, R. Vermeulen, 2018, Occupational and Environmental Medicine.