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The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 448 - 455
Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding genome function. Approaches based on next-generation sequencing applied at... 
Index Medicus
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 02/2018, Volume 1413, Issue 1, pp. 119 - 125
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 695 - 705
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 632 - 636
Journal Article
by Chong, Jessica X and McMillin, Margaret J and Shively, Kathryn M and Beck, Anita E and Marvin, Colby T and Armenteros, Jose R and Buckingham, Kati J and Nkinsi, Naomi T and Boyle, Evan A and Berry, Margaret N and Bocian, Maureen and Foulds, Nicola and Uzielli, Maria Luisa Giovannucci and Haldeman-Englert, Chad and Hennekam, Raoul C.M and Kaplan, Paige and Kline, Antonie D and Mercer, Catherine L and Nowaczyk, Malgorzata J.M and Klein Wassink-Ruiter, Jolien S and McPherson, Elizabeth W and Moreno, Regina A and Scheuerle, Angela E and Shashi, Vandana and Stevens, Cathy A and Carey, John C and Monteil, Arnaud and Lory, Philippe and Tabor, Holly K and Smith, Joshua D and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and Bamshad, Michael J and Abecasis, Gonçalo R and Anderson, Peter and Blue, Elizabeth Marchani and Annable, Marcus and Browning, Brian L and Chen, Christina and Chin, Jennifer and Cooper, Gregory M and Davis, Colleen P and Frazar, Christopher and Harrell, Tanya M and He, Zongxiao and Jain, Preti and Jarvik, Gail P and Jimenez, Guillaume and Johanson, Eric and Jun, Goo and Kircher, Martin and Kolar, Tom and Krauter, Stephanie A and Krumm, Niklas and Leal, Suzanne M and Luksic, Daniel and McGee, Sean and O’Reilly, Patrick and Paeper, Bryan and Patterson, Karynne and Perez, Marcos and Phillips, Sam W and Pijoan, Jessica and Poel, Christa and Reinier, Frederic and Robertson, Peggy D and Santos-Cortez, Regie and Shaffer, Tristan and Shephard, Cindy and Siegel, Deborah L and Staples, Jeffrey C and Tackett, Monica and Underwood, Jason G and Wegener, Marc and Wang, Gao and Wheeler, Marsha M and Yi, Qian and Univ Washington and University of Washington Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 462 - 473
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article