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Current Protocols in Human Genetics|October 7, 2015
Huntington Disease: Molecular Diagnostics ApproachMurat Bastepe, Winnie XinJournal of Medical Genetics|August 4, 2010
Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4John F Staropoli, Winnie Xin, Katherine B SimsHuman Mutation|September 20, 2006
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findingsIris Ahronowitz, Winnie Xin, Rosemary Kiely, et al.BMC Medical Genetics|June 26, 2012
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutationJohn F Staropoli, Winnie Xin, Rosemary Barone, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 2, 2022
Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohortJennifer Reiner, Lynne S Rosenblum, Winnie Xin, et al.The Journal of Molecular Diagnostics : JMD|January 3, 2024
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and ConsiderationsLynne S Rosenblum, Stephanie M Auger, Hui Zhu, et al.Annals of Neurology|September 22, 2007
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosisDavid Wu, Wenhao Yu, Hiroko Kishikawa, et al.The American Journal of Medicine|September 26, 2017
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic CardiomyopathyMartin S Maron, Winnie Xin, Katherine B Sims, et al.Molecular Genetics & Genomic Medicine|October 6, 2015
Novel recruitment strategy to enrich for LRRK2 mutation carriersTatiana Foroud, Danielle Smith, Jacqueline Jackson, et al.Molecular & Cellular Proteomics : MCP|April 23, 2009
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiologyDavid E Sleat, Lin Ding, Shudan Wang, et al.Pageof 2