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: RARA: 1124C>T; P375L

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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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: RARA: 1124C>T; Pro375Leu

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: RARA: P375L

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.

Molecular Autism

Chen, Siwei S; Wang, Jiebiao J; Cicek, Ercument E; Roeder, Kathryn K; Yu, Haiyuan H; Devlin, Bernie B

Publication Date: 2020-10-08

Variant appearance in text: RARA: P375L

PubMed Link: 33032641

Variant Present in the following documents:

• 13229_2020_386_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations.

Current Opinion In Systems Biology

Wierbowski, Shayne D SD; Fragoza, Robert R; Liang, Siqi S; Yu, Haiyuan H

Publication Date: 2018-10

Variant appearance in text: RARA: P375L

PubMed Link: 31086831

Variant Present in the following documents:

• Main text

View BVdb publication page

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An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.

Nature Genetics

Chen, Siwei S; Fragoza, Robert R; Klei, Lambertus L; Liu, Yuan Y; Wang, Jiebiao J; Roeder, Kathryn K; Devlin, Bernie B; Yu, Haiyuan H

Publication Date: 2018-07

Variant appearance in text: RARA: Pro375Leu

PubMed Link: 29892012

Variant Present in the following documents:

• Main text

View BVdb publication page

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: RARA: 1124C>T; Pro375Leu

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

View BVdb publication page

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