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: CASR: 196C>T; Arg66Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: CASR: 196C>T; Arg66Cys

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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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: CASR: 196C>T; R66C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: CASR: R66C

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor.

Science Advances

Wen, Tianlei T; Wang, Ziyu Z; Chen, Xiaozhe X; Ren, Yue Y; Lu, Xuhang X; Xing, Yangfei Y; Lu, Jing J; Chang, Shenghai S; Zhang, Xing X; Shen, Yuequan Y; Yang, Xue X

Publication Date: 2021-06

Variant appearance in text: NSHPT: R66C

PubMed Link: 34088669

Variant Present in the following documents:

• Main text

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Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor.

Science Advances

Wen, Tianlei T; Wang, Ziyu Z; Chen, Xiaozhe X; Ren, Yue Y; Lu, Xuhang X; Xing, Yangfei Y; Lu, Jing J; Chang, Shenghai S; Zhang, Xing X; Shen, Yuequan Y; Yang, Xue X

Publication Date: 2021-06

Variant appearance in text: NSHPT: R66C

PubMed Link: 34088669

Variant Present in the following documents:

• Main text

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: CASR: 196C>T; R66W

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CASR: 196C>T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: CASR: R66C

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.

Frontiers In Physiology

Zhang, Chen C; Miller, Cassandra L CL; Gorkhali, Rakshya R; Zou, Juan J; Huang, Kenneth K; Brown, Edward M EM; Yang, Jenny J JJ

Publication Date: 2016

Variant appearance in text: FHH: R66C

PubMed Link: 27746744

Variant Present in the following documents:

• Main text
• fphys-07-00441.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CASR: R66C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CASR: R66C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.

Molecular Endocrinology (Baltimore, Md.)

White, Elissa E; McKenna, Jennifer J; Cavanaugh, Alice A; Breitwieser, Gerda E GE

Publication Date: 2009-07

Variant appearance in text: NSHPT: R66C

PubMed Link: 19389809

Variant Present in the following documents:

• Main text

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Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.

Journal Of Cellular And Molecular Medicine

Hu, Jianxin J; Spiegel, Allen M AM

Publication Date: 2007

Variant appearance in text: FHH: R66C

PubMed Link: 17979873

Variant Present in the following documents:

• Main text
• jcmm0011-0908.pdf

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