Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Steven M. Holland, Richard O. Cannon, Forbes D. Porter, Wendy S. Rubinstein, David A. Bluemke, Mark H. Greene, Sara Chandros Hull, William A. Gahl, Christine Grady, Leslie G. Biesecker, David B. Resnik, Andrew J. Darnell, David Goldman, Kenneth H. Fischbeck, Howard Austin
Publikováno v:
The American Journal of Human Genetics. 98:435-441
Human genome and exome sequencing are powerful research tools that can generate secondary findings beyond the scope of the research. Most secondary genomic findings are of low importance, but some (for a current estimate of 1%–3% of individuals) co
Autor:
Ze Cheng, Santhosh Girirajan, Tiffany H. Vu, Raphael Bernier, Kenneth M. K. Mark, Evan E. Eichler, Megan Y. Dennis, Carl Baker, Catarina D. Campbell, Maika Malig, Bradley P. Coe, Can Alkan, Leslie G. Biesecker
Publikováno v:
The American Journal of Human Genetics. 92(2):221-237
Rare copy-number variants (CNVs) have been implicated in autism and intellectual disability. These variants are large and affect many genes but lack clear specificity toward autism as opposed to developmental-delay phenotypes. We exploited the repeat
Autor:
Jonathan S. Berg, Aleksandar Milosavljevic, Carrie Horton, Ragan Hart, Michael O. Dorschner, Michelle D. Amaral, Ronak Y. Patel, Matthew S. Lebo, Carolyn Sue Richards, Greg M. Cooper, Joseph Salama, Gail P. Jarvik, Kevin M. Bowling, Jeffrey Ou, Sharon E. Plon, Matthew C. Dulik, Leslie G. Biesecker, Arezou A. Ghazani, Natasha T. Strande, Jennifer J. Johnston, Laura M. Amendola, Rajarshi Ghosh, Robert C. Green, Yassmine Akkari, Yaping Yang, Laura K. Conlin, Sawona Biswas, Heidi L. Rehm, Michael C. Leo, Heather M. McLaughlin, Christine Pak, Sumit Punj
Publikováno v:
The American Journal of Human Genetics. 99(1)
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult, and standards have been needed. In 2015, the American Colle