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: CREBBP: 1941+1G>T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood

Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L

Publication Date: 2022-02

Variant appearance in text: CREBBP: 1941+1G>T

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.pdf

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Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Molecular Genetics & Genomic Medicine

Yu, Sha S; Wu, Bingbing B; Qian, Yanyan Y; Zhang, Ping P; Lu, Yulan Y; Dong, Xinran X; Wang, Qing Q; Zhao, Xuemei X; Liu, Renchao R; Zhou, Wenhao W; Wang, Huijun H

Publication Date: 2019-12

Variant appearance in text: CREBBP: 1941+1G>T

PubMed Link: 31637876

Variant Present in the following documents:

• Main text

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