Whole-exome sequencing in evaluation of patients with venous thromboembolism
Eun‐Ju Lee(Cornell University), Daniel Dykas, Andrew D. Leavitt(University of California, San Francisco), Rodney M. Camire(University of Pennsylvania), Eduard H.T.M. Ebberink(Sanquin), Pablo Garcı́a de Frutos, Kavitha Gnanasambandan(University of Florida), Sean X. Gu(University of Iowa), James A. Huntington(University of Cambridge), Steven R. Lentz(University of Iowa), Koen Mertens(Sanquin), Christopher R. Parish(Australian National University), Alireza R. Rezaie(Oklahoma Medical Research Foundation), Peter P. Sayeski(University of Florida), Caroline Cromwell(Icahn School of Medicine at Mount Sinai), Noffar Bar(Yale University), Stephanie Halene(Yale University), Natalia Neparidze(Yale University), Terri L. Parker(Yale University), Adrienne J. Burns(Yale Cancer Center), Anne Dumont(Yale Cancer Center), Xiaopan Yao, Cassius Iyad Ochoa Chaar(Yale University), Jean M. Connors(Brigham and Women's Hospital), A. Bale, Alfred Ian Lee(Yale University)
Cited by 71Open Access
Abstract
Key Points Using WES, we designed an extended thrombophilia panel consisting of 55 genes of significance to thrombosis. The extended thrombophilia panel identified multiple novel genetic variants with predicted roles in thrombosis or thrombophilia.
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