Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: RYR3: R829H

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.

Translational Psychiatry

Teles E Silva, André Luíz AL; Glaser, Talita T; Griesi-Oliveira, Karina K; Corrêa-Velloso, Juliana J; Wang, Jaqueline Yu Ting JYT; da Silva Campos, Gabriele G; Ulrich, Henning H; Balan, Andrea A; Zarrei, Mehdi M; Higginbotham, Edward J EJ; Scherer, Stephen W SW; Passos-Bueno, Maria Rita MR; Sertié, Andrea Laurato AL

Publication Date: 2022-06-06

Variant appearance in text: RYR3: R829H

PubMed Link: 35668055

Variant Present in the following documents:

• Main text
• 41398_2022_Article_1997.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: RYR3: R829H

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

American Journal Of Human Genetics

Pehlivan, Davut D; Bayram, Yavuz Y; Gunes, Nilay N; Coban Akdemir, Zeynep Z; Shukla, Anju A; Bierhals, Tatjana T; Tabakci, Burcu B; Sahin, Yavuz Y; Gezdirici, Alper A; Fatih, Jawid M JM; Gulec, Elif Yilmaz EY; Yesil, Gozde G; Punetha, Jaya J; Ocak, Zeynep Z; Grochowski, Christopher M CM; Karaca, Ender E; Albayrak, Hatice Mutlu HM; Radhakrishnan, Periyasamy P; Erdem, Haktan Bagis HB; Sahin, Ibrahim I; Yildirim, Timur T; Bayhan, Ilhan A IA; Bursali, Aysegul A; Elmas, Muhsin M; Yuksel, Zafer Z; Ozdemir, Ozturk O; Silan, Fatma F; Yildiz, Onur O; Yesilbas, Osman O; Isikay, Sedat S; Balta, Burhan B; Gu, Shen S; Jhangiani, Shalini N SN; Doddapaneni, Harsha H; Hu, Jianhong J; Muzny, Donna M DM; , ; Boerwinkle, Eric E; Gibbs, Richard A RA; Tsiakas, Konstantinos K; Hempel, Maja M; Girisha, Katta Mohan KM; Gul, Davut D; Posey, Jennifer E JE; Elcioglu, Nursel H NH; Tuysuz, Beyhan B; Lupski, James R JR

Publication Date: 2019-07-03

Variant appearance in text: RYR3: 2486G>A; Arg829His

PubMed Link: 31230720

Variant Present in the following documents:

• Main text

View BVdb publication page

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iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Cell Death & Disease

Melguizo-Sanchis, Dario D; Xu, Yaobo Y; Taheem, Dheraj D; Yu, Min M; Tilgner, Katarzyna K; Barta, Tomas T; Gassner, Katja K; Anyfantis, George G; Wan, Tengfei T; Elango, Ramu R; Alharthi, Sameer S; El-Harouni, Ashraf A AA; Przyborski, Stefan S; Adam, Soheir S; Saretzki, Gabriele G; Samarasinghe, Sujith S; Armstrong, Lyle L; Lako, Majlinda M

Publication Date: 2018-01-26

Variant appearance in text: RYR3: R829H; rs199500216

PubMed Link: 29374141

Variant Present in the following documents:

• 41419_2017_141_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.

Plos One

Reis, Viviane Neri de Souza VN; Kitajima, João Paulo JP; Tahira, Ana Carolina AC; Feio-Dos-Santos, Ana Cecília AC; Fock, Rodrigo Ambrósio RA; Lisboa, Bianca Cristina Garcia BC; Simões, Sérgio Nery SN; Krepischi, Ana C V AC; Rosenberg, Carla C; Lourenço, Naila Cristina NC; Passos-Bueno, Maria Rita MR; Brentani, Helena H

Publication Date: 2017

Variant appearance in text: RYR3: R829H; rs199500216

PubMed Link: 28118382

Variant Present in the following documents:

• pone.0170386.s007.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: RYR3: 2486G>A; R829H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Deep sequencing of RYR3 gene identifies rare and common variants associated with increased carotid intima-media thickness (cIMT) in HIV-infected individuals.

Journal Of Human Genetics

Zhi, Degui D; Shendre, Aditi A; Scherzer, Rebecca R; Irvin, Marguerite R MR; Perry, Rodney T RT; Levy, Shawn S; Arnett, Donna K DK; Grunfeld, Carl C; Shrestha, Sadeep S

Publication Date: 2015-02

Variant appearance in text: RYR3: R829H; rs199500216

PubMed Link: 25500725

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: RYR3: R829H

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: RYR3: R829H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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