Publications:

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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: GAA: R463C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Curated variation benchmarks for challenging medically relevant autosomal genes.

Nature Biotechnology

Wagner, Justin J; Olson, Nathan D ND; Harris, Lindsay L; McDaniel, Jennifer J; Cheng, Haoyu H; Fungtammasan, Arkarachai A; Hwang, Yih-Chii YC; Gupta, Richa R; Wenger, Aaron M AM; Rowell, William J WJ; Khan, Ziad M ZM; Farek, Jesse J; Zhu, Yiming Y; Pisupati, Aishwarya A; Mahmoud, Medhat M; Xiao, Chunlin C; Yoo, Byunggil B; Sahraeian, Sayed Mohammad Ebrahim SME; Miller, Danny E DE; Jáspez, David D; Lorenzo-Salazar, José M JM; Muñoz-Barrera, Adrián A; Rubio-Rodríguez, Luis A LA; Flores, Carlos C; Narzisi, Giuseppe G; Evani, Uday Shanker US; Clarke, Wayne E WE; Lee, Joyce J; Mason, Christopher E CE; Lincoln, Stephen E SE; Miga, Karen H KH; Ebbert, Mark T W MTW; Shumate, Alaina A; Li, Heng H; Chin, Chen-Shan CS; Zook, Justin M JM; Sedlazeck, Fritz J FJ

Publication Date: 2022-05

Variant appearance in text: GAA: R463C

PubMed Link: 35132260

Variant Present in the following documents:

• NIHMS1756297-supplement-Supplementary_Data_1.xlsx, sheet 7

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: GAA: R463C

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: GAA: R463C

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.

Metabolic Brain Disease

Jakóbkiewicz-Banecka, Joanna J; Gabig-Cimińska, Magdalena M; Banecka-Majkutewicz, Zyta Z; Banecki, Bogdan B; Węgrzyn, Alicja A; Węgrzyn, Grzegorz G

Publication Date: 2014-03

Variant appearance in text: GAA: R463C

PubMed Link: 24307179

Variant Present in the following documents:

• Main text
• 11011_2013_Article_9455.pdf

View BVdb publication page

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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS

Publication Date: 2013-03

Variant appearance in text: GAA: R463C

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

View BVdb publication page

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