Human mutation

Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.

Human mutation

Bassaganyas L, Freedman G, Vaka D, Wan E, Lao R, Chen F, Kvale M, Currier RJ, Puck JM, Kwok PY

HGV2012: leveraging next-generation technology and large datasets to advance disease research.

Human mutation

Gonzaludo N, Zheng HX, Wang J, Chanock SJ, Jin L, Scherer S, Wijmenga C, Kwok PY, Brookes AJ

HGV2011: personalized genomic medicine meets the incidentalome.

Human mutation

Wilson Sayres MA, Brookes AJ, Chanock SJ, Cheung VG, Goldstein DB, Jin L, Kwok PY

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.

Human mutation

Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF

HGV2009 meeting: bigger and better studies provide more answers and more questions.

Human mutation

Reekie K, Metspalu A, Chanock SJ, Liu ET, Mardis ER, Scherer SW, Kwok PY, Brookes AJ

Mutations in SOHLH1 gene associate with nonobstructive azoospermia.

Human mutation

Choi Y, Jeon S, Choi M, Lee MH, Park M, Lee DR, Jun KY, Kwon Y, Lee OH, Song SH, Kim JY, Lee KA, Yoon TK, Rajkovic A, Shim SH

Pages