Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RORA: 1385G>A; Arg462Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family.

Frontiers In Endocrinology

Verma, Sonia S; Chakraborti, Soumyananda S; Singh, Om P OP; Pande, Veena V; Dixit, Rajnikant R; Pandey, Amit V AV; Pandey, Kailash C KC

Publication Date: 2022

Variant appearance in text: RORA: R462Q

PubMed Link: 36246927

Variant Present in the following documents:

• fendo-13-981090.pdf

View BVdb publication page

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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: RORA: 1385G>A; R462Q

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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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: RORA: R462Q

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 mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: RORA: 1385G>A; R462Q

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

American Journal Of Human Genetics

Guissart, Claire C; Latypova, Xenia X; Rollier, Paul P; Khan, Tahir N TN; Stamberger, Hannah H; McWalter, Kirsty K; Cho, Megan T MT; Kjaergaard, Susanne S; Weckhuysen, Sarah S; Lesca, Gaetan G; Besnard, Thomas T; Õunap, Katrin K; Schema, Lynn L; Chiocchetti, Andreas G AG; McDonald, Marie M; de Bellescize, Julitta J; Vincent, Marie M; Van Esch, Hilde H; Sattler, Shannon S; Forghani, Irman I; Thiffault, Isabelle I; Freitag, Christine M CM; Barbouth, Deborah Sara DS; Cadieux-Dion, Maxime M; Willaert, Rebecca R; Guillen Sacoto, Maria J MJ; Safina, Nicole P NP; Dubourg, Christèle C; Grote, Lauren L; Carré, Wilfrid W; Saunders, Carol C; Pajusalu, Sander S; Farrow, Emily E; Boland, Anne A; Karlowicz, Danielle Hays DH; Deleuze, Jean-François JF; Wojcik, Monica H MH; Pressman, Rena R; Isidor, Bertrand B; Vogels, Annick A; Van Paesschen, Wim W; Al-Gazali, Lihadh L; Al Shamsi, Aisha Mohamed AM; Claustres, Mireille M; Pujol, Aurora A; Sanders, Stephan J SJ; Rivier, François F; Leboucq, Nicolas N; Cogné, Benjamin B; Sasorith, Souphatta S; Sanlaville, Damien D; Retterer, Kyle K; Odent, Sylvie S; Katsanis, Nicholas N; Bézieau, Stéphane S; Koenig, Michel M; Davis, Erica E EE; Pasquier, Laurent L; Küry, Sébastien S

Publication Date: 2018-05-03

Variant appearance in text: RORA: 1385G>A; Arg462Gln

PubMed Link: 29656859

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: RORA: R462Q

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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