Clinical syndromes linked to biallelic germline variants in <i>MCM8</i> and <i>MCM9</i>Noah C. Helderman, Margot J. Wyrwoll, Ting Yang et al.|medRxiv|2024Cited by 1
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9Noah C. Helderman, Maartje Nielsen, Marjolijn C.J. Jongmans et al.|Human Genetics and Genomics Advances|2025Cited by 1
Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancerMariona Terradas, Laura Valle, Pilar Mur et al.|Clinical Epigenetics|2025Cited by 1
Biallelic Germline Inactivation of <scp> <i>HROB</i> </scp> Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis PredispositionNoah C. Helderman, Maartje Nielsen, Carli M. Tops et al.|American Journal of Medical Genetics Part A|2026Cited by 0