Quantifying the contribution of recessive coding variation to developmental disorders
量化隐性编码变异对发育障碍的影响
期刊:Science
影响因子:45.8
doi:10.1126/science.aar6731
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; Akawi, 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