Publications:

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: SCN1A: 2137G>A; A713T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.

Frontiers In Pediatrics

Zhang, Linxia L; Wen, Yongxin Y; Zhang, Qingping Q; Chen, Yan Y; Wang, Jiaping J; Shi, Kaili K; Du, Lijun L; Bao, Xinhua X

Publication Date: 2020

Variant appearance in text: SCN1A: A713T

PubMed Link: 33425808

Variant Present in the following documents:

• Main text
• fped-08-577544.pdf

View BVdb publication page

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal Of Medical Genetics

Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y

Publication Date: 2020-08

Variant appearance in text: SCN1A: 2137G>A

PubMed Link: 32005694

Variant Present in the following documents:

• jmedgenet-2019-106377supp005.pdf

View BVdb publication page

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

The New England Journal Of Medicine

Myers, Candace T CT; Hollingsworth, Georgina G; Muir, Alison M AM; Schneider, Amy L AL; Thuesmunn, Zoe Z; Knupp, Allison A; King, Chontelle C; Lacroix, Amy A; Mehaffey, Michele G MG; Berkovic, Samuel F SF; Carvill, Gemma L GL; Sadleir, Lynette G LG; Scheffer, Ingrid E IE; Mefford, Heather C HC

Publication Date: 2018-04-26

Variant appearance in text: SCN1A: A713T

PubMed Link: 29694806

Variant Present in the following documents:

• Main text

View BVdb publication page