Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: KDM5B[original query] |
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Quantifying the contribution of recessive coding variation to developmental disorders. Science (New York, N.Y.) 2018 12 362 (6419): 1161-1164. 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, |
De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific reports 2020 Apr 10 (1): 7046. Ji Weizhen, Ferdman Dina, Copel Joshua, Scheinost Dustin, Shabanova Veronika, Brueckner Martina, Khokha Mustafa K, Ment Laura |
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. PLoS genetics 2021 Jul 17 (7): e1009679. Audain Enrique, Wilsdon Anna, Breckpot Jeroen, Izarzugaza Jose M G, Fitzgerald Tomas W, Kahlert Anne-Karin, Sifrim Alejandro, Wünnemann Florian, Perez-Riverol Yasset, Abdul-Khaliq Hashim, Bak Mads, Bassett Anne S, Benson D Woodrow, Berger Felix, Daehnert Ingo, Devriendt Koenraad, Dittrich Sven, Daubeney Piers Ef, Garg Vidu, Hackmann Karl, Hoff Kirstin, Hofmann Philipp, Dombrowsky Gregor, Pickardt Thomas, Bauer Ulrike, Keavney Bernard D, Klaassen Sabine, Kramer Hans-Heiner, Marshall Christian R, Milewicz Dianna M, Lemaire Scott, Coselli Joseph S, Mitchell Michael E, Tomita-Mitchell Aoy, Prakash Siddharth K, Stamm Karl, Stewart Alexandre F R, Silversides Candice K, Siebert Reiner, Stiller Brigitte, Rosenfeld Jill A, Vater Inga, Postma Alex V, Caliebe Almuth, Brook J David, Andelfinger Gregor, Hurles Matthew E, Thienpont Bernard, Larsen Lars Allan, Hitz Marc-Phill |
Rare genetic variants impact muscle strength. Nature communications 2023 6 14 (1): 3449. Yunfeng Huang, Dora Bodnar, Chia-Yen Chen, Gabriela Sanchez-Andrade, Mark Sanderson, , Jun Shi, Katherine G Meilleur, Matthew E Hurles, Sebastian S Gerety, Ellen A Tsai, Heiko Ru |
The impact of rare protein coding genetic variation on adult cognitive function. Nature genetics 2023 5 . Chia-Yen Chen, Ruoyu Tian, Tian Ge, Max Lam, Gabriela Sanchez-Andrade, Tarjinder Singh, Lea Urpa, Jimmy Z Liu, Mark Sanderson, Christine Rowley, Holly Ironfield, Terry Fang, , , , Mark Daly, Aarno Palotie, Ellen A Tsai, Hailiang Huang, Matthew E Hurles, Sebastian S Gerety, Todd Lencz, Heiko Ru |
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PloS one 2023 10 18 (10): e0291978. Thomas V Fernandez, Zsanett P Williams, Tina Kline, Shreenath Rajendran, Farhan Augustine, Nicole Wright, Catherine A W Sullivan, Emily Olfson, Sarah B Abdallah, Wenzhong Liu, Ellen J Hoffman, Abha R Gupta, Harvey S Sing |
Characterization of Cancer/Testis Antigens as Prognostic Markers of Ovarian Cancer. Diagnostics (Basel, Switzerland) 2023 10 13 (19): . Ramilia Vlasenkova, Daliya Konysheva, Alsina Nurgalieva, Ramziya Kiyamo |
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- Page last updated:Mar 25, 2024
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