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Quantifying the contribution of recessive coding variation to developmental disorders 期刊论文
SCIENCE, 2018, 362 (6419) : 1161-+
作者:  Martin, Hilary C.;  Jones, Wendy D.;  McIntyre, Rebecca;  Sanchez-Andrade, Gabriela;  Sanderson, Mark;  Stephenson, James D.;  Jones, Carla P.;  Handsaker, Juliet;  Gallone, Giuseppe;  Bruntraeger, Michaela;  McRae, Jeremy F.;  Prigmore, Elena;  Short, Patrick;  Niemi, Mari;  Kaplanis, Joanna;  Radford, Elizabeth J.;  Akavvi, Nadia;  Balasubramanian, Meena;  Dean, John;  Horton, Rachel;  Hulbert, Alice;  Johnson, Diana S.;  Johnson, Katie;  Kumar, Dhavendra;  Lynch, Sally Ann;  Mehta, Sarju G.;  Morton, Jenny;  Parker, Michael J.;  Splitt, Miranda;  Turnpenny, Peter D.;  Vasudevan, Pradeep C.;  Wright, Michael;  Bassett, Andrew;  Gerety, Sebastian S.;  Wright, Caroline F.;  FitzPatrick, David R.;  Firth, Helen, V;  Hurles, Matthew E.;  Barrett, Jeffrey C.
收藏  |  浏览/下载：11/0  |  提交时间：2019/11/27
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation 期刊论文
SCIENCE, 2018, 361 (6404) : 810-813
作者:  Cuchet-Lourenco, Delphine;  Eletto, Davide;  Wu, Changxin;  Plagnol, Vincent;  Papapietro, Olivier;  Curtis, James;  Ceron-Gutierrez, Lourdes;  Bacon, Chris M.;  Hackett, Scott;  Alsaleem, Badr;  Maes, Mailis;  Gaspar, Miguel;  Alisaac, Ali;  Goss, Emma;  AlIdrissi, Eman;  Siegmund, Daniela;  Wajant, Harald;  Kumararatne, Dinakantha;  AlZahrani, Mofareh S.;  Arkwright, Peter D.;  Abinun, Mario;  Doffinger, Rainer;  Nejentsev, Sergey
收藏  |  浏览/下载：14/0  |  提交时间：2019/11/27
Pacing of Paleozoic macroevolutionary rates by Milankovitch grand cycles 期刊论文
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2018, 115 (22) : 5686-5691
作者:  Crampton, James S.;  Meyers, Stephen R.;  Cooper, Roger A.;  Sadler, Peter M.;  Foote, Michael;  Harte, David
收藏  |  浏览/下载：8/0  |  提交时间：2019/11/27
Paleozoic  graptoloids  Milankovitch grand cycles  macroevolution  macroevolutionary rates  
Insurance coverage for genomic tests 期刊论文
SCIENCE, 2018, 360 (6386) : 278-279
作者:  Phillips, Kathryn A.;  Trosman, Julia R.;  Deverka, Patricia A.;  Quinn, Bruce;  Tunis, Sean;  Neumann, Peter J.;  Chambers, James D.;  Garrison, Louis P., Jr.;  Douglas, Michael P.;  Weldon, Christine B.
收藏  |  浏览/下载：7/0  |  提交时间：2019/11/27
Detection and localization of surgically resectable cancers with a multi-analyte blood test 期刊论文
SCIENCE, 2018, 359 (6378) : 926-+
作者:  Cohen, Joshua D.;  Li, Lu;  Wang, Yuxuan;  Thoburn, Christopher;  Afsari, Bahman;  Danilova, Ludmila;  Douville, Christopher;  Javed, Ammar A.;  Wong, Fay;  Mattox, Austin;  Hruban, Ralph. H.;  Wolfgang, Christopher L.;  Goggins, Michael G.;  Dal Molin, Marco;  Wang, Tian-Li;  Roden, Richard;  Klein, Alison P.;  Ptak, Janine;  Dobbyn, Lisa;  Schaefer, Joy;  Silliman, Natalie;  Popoli, Maria;  Vogelstein, Joshua T.;  Browne, James D.;  Schoen, Robert E.;  Brand, Randall E.;  Tie, Jeanne;  Gibbs, Peter;  Wong, Hui-Li;  Mansfield, Aaron S.;  Jen, Jin;  Hanash, Samir M.;  Falconi, Massimo;  Allen, Peter J.;  Zhou, Shibin;  Bettegowda, Chetan;  Diaz, Luis A., Jr.;  Tomasetti, Cristian;  Kinzler, Kenneth W.;  Vogelstein, Bert;  Lennon, Anne Marie;  Papadopoulos, Nickolas
收藏  |  浏览/下载：34/0  |  提交时间：2019/11/27