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Protocol for the EARCO Registry: a pan-European observational study in patients with α1-antitrypsin deficiency2020 ERJ Open Research article Medicine Chronic Obstructive Pulmonary Disease (COPD) Research Open access
Timm Greulich, Alan Altraja, Míriam Barrecheguren, Robert Bals, J Chlumský, Joanna Chorostowska‐Wynimko, +31 more
46citations -
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi S. Shaya, +23 more
33citations -
A Combined mRNA- and miRNA-Sequencing Approach Reveals miRNAs as Potential Regulators of the Small Intestinal Transcriptome in Celiac Disease2021 International Journal of Molecular Sciences article Medicine Celiac Disease Research and Management Open access
Ineke L. Tan, Donatella Barisani, Roberto Panceri, Rutger Modderman, Marijn Caroline Visschedijk, Rinse Karel Weersma, +4 more
16citations -
Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data2022 The Pharmacogenomics Journal article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Alireza Tafazoli, Maaike van der Lee, Jesse Joachim Swen, Anna Zeller, Natalia Wawrusiewicz‐Kurylonek, Hailiang Mei, +4 more
14citations -
Scoping review of genetic databases for rare dermatologic diseases: Opportunity for artificial intelligence and machine learning2023 JAAD International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Celine M. Schreidah, George Bingham Reynolds, Lauren M. Fahmy, Richard D. Carvajal, Maarten H. Vermeer, Sean J Whittaker, +2 more
6citations -
The association between clock gene polymorphisms and type 2 diabetes: A systematic review and meta-analysis2025 Diabetes & Metabolic Syndrome Clinical Research & Reviews review Neuroscience Circadian rhythm and melatonin Open access
Divya Joshi, Marie Pigeyre, Muhammad Usman Ali, Renée de Mutsert, Femke Rutters, David J.T. Campbell, +10 more
5citations -
Working alliance in exposure-based treatments of posttraumatic stress disorder related to childhood abuse.2024 Journal of Consulting and Clinical Psychology article Psychology Psychotherapy Techniques and Applications Open access
Danielle A. C. Oprel, Chris Maria Hoeboer, Maartje Schoorl, Rianne A. de Kleine, Willem A. J. van der Does, Agnes van Minnen
4citations -
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi S. Shaya, +23 more
3citations -
Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data2025 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lieke Lanjouw, Claire J.H. Kramer, Arja ter Elst, Geertruida H. de Bock, Katja N. Gaarenstroom, Refika Yigit, +10 more
2citations -
Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer2025 npj Breast Cancer article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Reiner Hoppe, Stefan Winter, Wing‐Yee Lo, Kyriaki Michailidou, Manjeet K. Bolla, Renske Keeman, +68 more
1citations -
Telomere biology disorders associated with childhood interstitial lung disease2026 Korean Journal of Pediatrics article Medicine Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis Open access
M Greiner-Mai, Christina Katharina Rapp, Katrin Knoflach, Daniel Gräfe, W. Hirsch, Julia Ley‐Zaporozhan, +16 more
1citations -
A Landscape Analysis of Human SUMOylation2026 Molecular & Cellular Proteomics article Biochemistry, Genetics and Molecular Biology Ubiquitin and proteasome pathways Open access
Shireen Al-Momani, Kerry A. Ramsbottom, Andrew Collins, Ellen Boswell, Ivo Alexander Hendriks, Michael Lund Nielsen, +11 more
1citations -
Reply to the Commentary on population matched (pm) germline allelic variants of immunoglobulin (IG) loci: relevance in infectious diseases and vaccination studies in human populations
Indu Khatri, Magdalena A. Berkowska, Erik B. van den Akker, Cristina Teodósio, Marcel J. T. Reinders, Jacques J. M. van Dongen
1citations -
Generation of isogenic allelic series of LMNA-mutated hiPSC lines using the novel and highly-efficient targeting platform, STRAIGHT-IN2024 Cardiovascular Research article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Viviana Meraviglia, Albert Blanch-Asensio, Richard P. Davis, Christine L. Mummery, Milena Bellin
0citations -
Late Breaking Abstract - Impact of COVID-19 on patients with severe alpha1 antitrypsin deficiency: the IMCA1 study of the EARCO ERS Clinical Research Collaboration, preliminary findings
David G. Parr, Christian Friedrich Clarenbach, Joanna Chorostowska‐Wynimko, Angelo Guido Corsico, Ilaria Ferrarotti, Lourdes Lázaro-Asegurado, +8 more
0citations -
Poor outcome of patients with COVID-19 after CAR T-cell therapy for B-cell malignancies: results of a multicenter study on behalf of the European Society for Blood and Marrow Transplantation (EBMT) Infectious Diseases Working Party and the European Hematology Association (EHA) Lymphoma Group
Anne Mea Spanjaart, Per T Ljungman, Rafael de la Cámara, Gloria Tridello, Valentín Ortiz‐Maldonado, Álvaro Urbano-Ispizúa, +28 more
115citations -
Genomic and phenomic insights from an atlas of genetic effects on DNA methylation2020 medRxiv preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Josine L. Min, Gibran Hemani, Eilis J. Hannon, Koen F. Dekkers, Juan Castillo Fernandez, René Luijk, +92 more
36citations -
HLA‐G whole gene amplification reveals linkage disequilibrium between the HLA‐G 3′UTR and coding sequence2020 HLA article Immunology and Microbiology Reproductive System and Pregnancy Open access cited by 4 patents
Jos J. M. Drabbels, Robert Welleweerd, Inge van Rooy, Guro Mørk Johnsen, Anne Cathrine Staff, Geert W. Haasnoot, +4 more
24citations