Publications:

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

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

Qiao, Lu L; Wynn, Julia J; Yu, Lan L; Hernan, Rebecca R; Zhou, Xueya X; Duron, Vincent V; Aspelund, Gudrun G; Farkouh-Karoleski, Christiana C; Zygumunt, Annette A; Krishnan, Usha S US; Nees, Shannon S; Khlevner, Julie J; Lim, Foong Yen FY; Crombleholme, Timothy T; Cusick, Robert R; Azarow, Kenneth K; Danko, Melissa Ellen ME; Chung, Dai D; Warner, Brad W BW; Mychaliska, George B GB; Potoka, Douglas D; Wagner, Amy J AJ; Soffer, Samuel S; Schindel, David D; McCulley, David J DJ; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2020-12

Variant appearance in text: MED16: 692C>T; A231V

PubMed Link: 32719394

Variant Present in the following documents:

• NIHMS1619686-supplement-Supplementary_tables.xlsx, sheet 3

View BVdb publication page

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Plos Genetics

Qi, Hongjian H; Yu, Lan L; Zhou, Xueya X; Wynn, Julia J; Zhao, Haoquan H; Guo, Yicheng Y; Zhu, Na N; Kitaygorodsky, Alexander A; Hernan, Rebecca R; Aspelund, Gudrun G; Lim, Foong-Yen FY; Crombleholme, Timothy T; Cusick, Robert R; Azarow, Kenneth K; Danko, Melissa E ME; Chung, Dai D; Warner, Brad W BW; Mychaliska, George B GB; Potoka, Douglas D; Wagner, Amy J AJ; ElFiky, Mahmoud M; Wilson, Jay M JM; Nickerson, Debbie D; Bamshad, Michael M; High, Frances A FA; Longoni, Mauro M; Donahoe, Patricia K PK; Chung, Wendy K WK; Shen, Yufeng Y

Publication Date: 2018-12

Variant appearance in text: MED16: A231V

PubMed Link: 30532227

Variant Present in the following documents:

• pgen.1007822.s011.xlsx, sheet 2

View BVdb publication page

De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: MED16: A231V

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 9

View BVdb publication page