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: ATP2B2: 3191G>A; Trp1064*

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: PMCA2: Trp1064*

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

View BVdb publication page

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: ATP2B2: 3191G>A; Trp1064*

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8
• 13073_2022_1042_MOESM2_ESM.xls, sheet 4

View BVdb publication page

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

Human Genetics

Smits, Jeroen J JJ; Oostrik, Jaap J; Beynon, Andy J AJ; Kant, Sarina G SG; de Koning Gans, Pia A M PAM; Rotteveel, Liselotte J C LJC; Klein Wassink-Ruiter, Jolien S JS; Free, Rolien H RH; Maas, Saskia M SM; van de Kamp, Jiddeke J; Merkus, Paul P; , ; Koole, Wouter W; Feenstra, Ilse I; Admiraal, Ronald J C RJC; Lanting, Cornelis P CP; Schraders, Margit M; Yntema, Helger G HG; Pennings, Ronald J E RJE; Kremer, Hannie H

Publication Date: 2019-01

Variant appearance in text: ATP2B2: Trp1064*

PubMed Link: 30535804

Variant Present in the following documents:

• Main text
• 439_2018_Article_1965.pdf

View BVdb publication page