Publications:

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: TRMT61A: 368G>A; Arg123His

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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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: TRMT61A: 368G>A; R123H

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: TRMT61A: R123H; rs368720777

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

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Distinct molecular profile of diffuse cerebellar gliomas.

Acta Neuropathologica

Nomura, Masashi M; Mukasa, Akitake A; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Suzuki, Tomonari T; Otani, Ryohei R; Kobayashi, Keiichi K; Maruyama, Takashi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Nejo, Takahide T; Takahashi, Satoshi S; Ichimura, Koichi K; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Ueki, Keisuke K; Nishikawa, Ryo R; Shibahara, Junji J; Aburatani, Hiroyuki H; Saito, Nobuhito N

Publication Date: 2017-12

Variant appearance in text: TRMT61A: R123H

PubMed Link: 28852847

Variant Present in the following documents:

• 401_2017_1771_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page