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Frontiers in Oncology|July 20, 2023
Computational pharmacogenotype extraction from clinical next-generation sequencingTyler Shugg, Reynold C Ly, Wilberforce Osei, et al.
American Journal of Human Genetics|December 2, 2019
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal DiagnosisLiesbeth Vossaert, Qun Wang, Roseen Salman, et al.
Plos Genetics|October 3, 2013
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsyIan M Campbell, Mitchell Rao, Sean D Arredondo, et al.
Plos Genetics|November 24, 2016
Mechanisms for Complex Chromosomal InsertionsShen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, et al.
Journal of Medical Genetics|August 24, 2016
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONODaryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, et al.
Prenatal Diagnosis|September 13, 2016
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testingAmy M Breman, Jennifer C Chow, Lance U'Ren, et al.
Genome Research|January 6, 2011
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomesZhishuo Ou, Paweł Stankiewicz, Zhilian Xia, et al.
Kidney International|May 26, 2020
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndromeNan Yang, Nan Wu, Shuangshuang Dong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
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