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: DNMT3A: 1993G>T; V665L
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21
Variant appearance in text: DNMT3A: V665L; rs766020170
Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers.
Blood Cancer Discovery
Feusier, Julie E JE; Arunachalam, Sasi S; Tashi, Tsewang T; Baker, Monika J MJ; VanSant-Webb, Chad C; Ferdig, Amber A; Welm, Bryan E BE; Rodriguez-Flores, Juan L JL; Ours, Christopher C; Jorde, Lynn B LB; Prchal, Josef T JT; Mason, Clinton C CC
DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders.
Cell Reports
Christian, Diana L DL; Wu, Dennis Y DY; Martin, Jenna R JR; Moore, J Russell JR; Liu, Yiran R YR; Clemens, Adam W AW; Nettles, Sabin A SA; Kirkland, Nicole M NM; Papouin, Thomas T; Hill, Cheryl A CA; Wozniak, David F DF; Dougherty, Joseph D JD; Gabel, Harrison W HW
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Nature Genetics
Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ
Publication Date: 2017-04
Variant appearance in text: DNMT3A: 1993G>T; Val665Leu
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Neuron
Sanders, Stephan J SJ; He, Xin X; Willsey, A Jeremy AJ; Ercan-Sencicek, A Gulhan AG; Samocha, Kaitlin E KE; Cicek, A Ercument AE; Murtha, Michael T MT; Bal, Vanessa H VH; Bishop, Somer L SL; Dong, Shan S; Goldberg, Arthur P AP; Jinlu, Cai C; Keaney, John F JF; Klei, Lambertus L; Mandell, Jeffrey D JD; Moreno-De-Luca, Daniel D; Poultney, Christopher S CS; Robinson, Elise B EB; Smith, Louw L; Solli-Nowlan, Tor T; Su, Mack Y MY; Teran, Nicole A NA; Walker, Michael F MF; Werling, Donna M DM; Beaudet, Arthur L AL; Cantor, Rita M RM; Fombonne, Eric E; Geschwind, Daniel H DH; Grice, Dorothy E DE; Lord, Catherine C; Lowe, Jennifer K JK; Mane, Shrikant M SM; Martin, Donna M DM; Morrow, Eric M EM; Talkowski, Michael E ME; Sutcliffe, James S JS; Walsh, Christopher A CA; Yu, Timothy W TW; , ; Ledbetter, David H DH; Martin, Christa Lese CL; Cook, Edwin H EH; Buxbaum, Joseph D JD; Daly, Mark J MJ; Devlin, Bernie B; Roeder, Kathryn K; State, Matthew W MW