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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2010
Complete COL1A1 allele deletions in osteogenesis imperfectaFleur S van Dijk, Margriet Huizer, Ariana Kariminejad, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delayAyşegül Ozantürk, Erica E Davis, Aniko Sabo, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 10, 2016
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleedsPetra E Cohn-Hokke, Henne Holstege, Marjan M Weiss, et al.
Cellular Oncology (Dordrecht, Netherlands)|November 3, 2012
Detection limits of DNA copy number alterations in heterogeneous cell populationsOscar Krijgsman, Daniëlle Israeli, Hendrik F van Essen, et al.
American Journal of Human Genetics|November 7, 2020
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal AbnormalitiesPauline E Schneeberger, Leonie von Elsner, Emma L Barker, et al.
NPJ Genomic Medicine|September 5, 2017
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformationXiaoyan Ge, Henry Gong, Kevin Dumas, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Familial Cancer|October 14, 2006
The natural history of a combined defect in MSH6 and MUTYH in a HNPCC familyMarjo van Puijenbroek, Maartje Nielsen, Tjitske H C M Reinards, et al.
Breast Cancer Research and Treatment|March 2, 2010
Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancerMarijke Wasielewski, Astrid A Out, Joyce Vermeulen, et al.
BMC Medical Genetics|January 13, 2006
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytomaJean-Pierre Bayley, Ivonne van Minderhout, Marjan M Weiss, et al.
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