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Annals of the Rheumatic Diseases|March 19, 2013
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory diseaseMonique Stoffels, Agata Szperl, Anna Simon, et al.American Journal of Physiology. Endocrinology and Metabolism|April 27, 2012
Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient ratsJoram D Mul, Denovan P Begg, Suzanne I M Alsters, et al.Genome Biology|October 22, 2011
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancerWigard P Kloosterman, Marlous Hoogstraat, Oscar Paling, et al.American Journal of Human Genetics|April 10, 2012
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencingAndy Itsara, Lisenka E L M Vissers, Karyn Meltz Steinberg, et al.Nature Communications|November 7, 2022
Sister chromatid exchanges induced by perturbed replication can form independently of BRCA1, BRCA2 and RAD51Anne Margriet Heijink, Colin Stok, David Porubsky, et al.Plos One|May 17, 2011
Chronic loss of melanin-concentrating hormone affects motivational aspects of feeding in the ratJoram D Mul, Susanne E la Fleur, Pim W Toonen, et al.Human Molecular Genetics|March 2, 2012
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosisHylke M Blauw, Wouter van Rheenen, Max Koppers, et al.Nature Medicine|March 21, 2026
Real-world clinical utility of tumor whole-genome sequencing in solid cancersJeffrey van Putten, Petur Snaebjornsson, Linda J W Bosch, et al.Cancer Treatment Reviews|September 27, 2025
Genomic distinctions in adolescent and young adult cancer: A comprehensive reviewJeffrey van Putten, Lina H Lankhorst, Adrianus Johannes de Langen, et al.Nature Communications|May 14, 2025
Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiencyDilys D Weijers, Snežana Hinić, Emma Kroeze, et al.Pageof 34