Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: CREBBP: 3524A>G; Tyr1175Cys
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09
Variant appearance in text: CREBBP: 3524A>G; Y1175C
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Hgg Advances
Levy, Michael A MA; McConkey, Haley H; Kerkhof, Jennifer J; Barat-Houari, Mouna M; Bargiacchi, Sara S; Biamino, Elisa E; Bralo, María Palomares MP; Cappuccio, Gerarda G; Ciolfi, Andrea A; Clarke, Angus A; DuPont, Barbara R BR; Elting, Mariet W MW; Faivre, Laurence L; Fee, Timothy T; Fletcher, Robin S RS; Cherik, Florian F; Foroutan, Aidin A; Friez, Michael J MJ; Gervasini, Cristina C; Haghshenas, Sadegheh S; Hilton, Benjamin A BA; Jenkins, Zandra Z; Kaur, Simranpreet S; Lewis, Suzanne S; Louie, Raymond J RJ; Maitz, Silvia S; Milani, Donatella D; Morgan, Angela T AT; Oegema, Renske R; Østergaard, Elsebet E; Pallares, Nathalie Ruiz NR; Piccione, Maria M; Pizzi, Simone S; Plomp, Astrid S AS; Poulton, Cathryn C; Reilly, Jack J; Relator, Raissa R; Rius, Rocio R; Robertson, Stephen S; Rooney, Kathleen K; Rousseau, Justine J; Santen, Gijs W E GWE; Santos-Simarro, Fernando F; Schijns, Josephine J; Squeo, Gabriella Maria GM; St John, Miya M; Thauvin-Robinet, Christel C; Traficante, Giovanna G; van der Sluijs, Pleuntje J PJ; Vergano, Samantha A SA; Vos, Niels N; Walden, Kellie K KK; Azmanov, Dimitar D; Balci, Tugce T; Banka, Siddharth S; Gecz, Jozef J; Henneman, Peter P; Lee, Jennifer A JA; Mannens, Marcel M A M MMAM; Roscioli, Tony T; Siu, Victoria V; Amor, David J DJ; Baynam, Gareth G; Bend, Eric G EG; Boycott, Kym K; Brunetti-Pierri, Nicola N; Campeau, Philippe M PM; Christodoulou, John J; Dyment, David D; Esber, Natacha N; Fahrner, Jill A JA; Fleming, Mark D MD; Genevieve, David D; Kerrnohan, Kristin D KD; McNeill, Alisdair A; Menke, Leonie A LA; Merla, Giuseppe G; Prontera, Paolo P; Rockman-Greenberg, Cheryl C; Schwartz, Charles C; Skinner, Steven A SA; Stevenson, Roger E RE; Vitobello, Antonio A; Tartaglia, Marco M; Alders, Marielle M; Tedder, Matthew L ML; Sadikovic, Bekim B
Publication Date: 2022-01-13
Variant appearance in text: CREBBP: 3524A>G; Tyr1175Cys
Mutational patterns in chemotherapy resistant muscle-invasive bladder cancer.
Nature Communications
Liu, David D; Abbosh, Philip P; Keliher, Daniel D; Reardon, Brendan B; Miao, Diana D; Mouw, Kent K; Weiner-Taylor, Amaro A; Wankowicz, Stephanie S; Han, Garam G; Teo, Min Yuen MY; Cipolla, Catharine C; Kim, Jaegil J; Iyer, Gopa G; Al-Ahmadie, Hikmat H; Dulaimi, Essel E; Chen, David Y T DYT; Alpaugh, R Katherine RK; Hoffman-Censits, Jean J; Garraway, Levi A LA; Getz, Gad G; Carter, Scott L SL; Bellmunt, Joaquim J; Plimack, Elizabeth R ER; Rosenberg, Jonathan E JE; Van Allen, Eliezer M EM
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
International Journal Of Molecular Sciences
Yoo, Hee Jeong HJ; Kim, Kyung K; Kim, In Hyang IH; Rho, Seong-Hwan SH; Park, Jong-Eun JE; Lee, Ki Young KY; Kim, Soon Ae SA; Choi, Byung Yoon BY; Kim, Namshin N
Publication Date: 2015-03-11
Variant appearance in text: CREBBP: 3524A>G; Tyr1175Cys; rs28937315
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.
Bioinformatics And Biology Insights
Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE