Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: ADGRV1: 6317C>T; Ala2106Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: ADGRV1: A2106V

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications

Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D

Publication Date: 2022-04-21

Variant appearance in text: ADGRV1: A2106V

PubMed Link: 35449156

Variant Present in the following documents:

• 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.

Molecular Genetics & Genomic Medicine

Liu, Min M; Liang, Yue Y; Huang, Bixue B; Sun, Jincangjian J; Chen, Kaitian K

Publication Date: 2022-04

Variant appearance in text: GPR98: 6317C>T

PubMed Link: 35106950

Variant Present in the following documents:

• Main text
• MGG3-10-e1887.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: GPR98: 6317C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: GPR98: 6317C>T

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis.

Journal Of Ophthalmology

Sisk, Robert A RA; Hufnagel, Robert B RB; Laham, Ailee A; Wohler, Elizabeth S ES; Sobreira, Nara N; Ahmed, Zubair M ZM

Publication Date: 2018

Variant appearance in text: GPR98: 6317C>T

PubMed Link: 30116628

Variant Present in the following documents:

• 2984934.f1.pdf

View BVdb publication page

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Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

Circulation. Cardiovascular Genetics

Guo, Tingwei T; Repetto, Gabriela M GM; McDonald McGinn, Donna M DM; Chung, Jonathan H JH; Nomaru, Hiroko H; Campbell, Christopher L CL; Blonska, Anna A; Bassett, Anne S AS; Chow, Eva W C EWC; Mlynarski, Elisabeth E EE; Swillen, Ann A; Vermeesch, Joris J; Devriendt, Koen K; Gothelf, Doron D; Carmel, Miri M; Michaelovsky, Elena E; Schneider, Maude M; Eliez, Stephan S; Antonarakis, Stylianos E SE; Coleman, Karlene K; Tomita-Mitchell, Aoy A; Mitchell, Michael E ME; Digilio, M Cristina MC; Dallapiccola, Bruno B; Marino, Bruno B; Philip, Nicole N; Busa, Tiffany T; Kushan-Wells, Leila L; Bearden, Carrie E CE; Piotrowicz, Małgorzata M; Hawuła, Wanda W; Roberts, Amy E AE; Tassone, Flora F; Simon, Tony J TJ; van Duin, Esther D A EDA; van Amelsvoort, Thérèse A TA; Kates, Wendy R WR; Zackai, Elaine E; Johnston, H Richard HR; Cutler, David J DJ; Agopian, A J AJ; Goldmuntz, Elizabeth E; Mitchell, Laura E LE; Wang, Tao T; Emanuel, Beverly S BS; Morrow, Bernice E BE; ,

Publication Date: 2017-10

Variant appearance in text: rs186999408

PubMed Link: 29025761

Variant Present in the following documents:

• hcg-10-e001690-s001.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ADGRV1: 6317C>T; Ala2106Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia

Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R

Publication Date: 2017-07

Variant appearance in text: GPR98: A2106V

PubMed Link: 27899802

Variant Present in the following documents:

• leu2016365x3.xlsx, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: GPR98: 6317C>T

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.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: GPR98: 6317C>T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Nature Communications

Bizet, Albane A AA; Becker-Heck, Anita A; Ryan, Rebecca R; Weber, Kristina K; Filhol, Emilie E; Krug, Pauline P; Halbritter, Jan J; Delous, Marion M; Lasbennes, Marie-Christine MC; Linghu, Bolan B; Oakeley, Edward J EJ; Zarhrate, Mohammed M; Nitschké, Patrick P; Garfa-Traore, Meriem M; Serluca, Fabrizio F; Yang, Fan F; Bouwmeester, Tewis T; Pinson, Lucile L; Cassuto, Elisabeth E; Dubot, Philippe P; Elshakhs, Neveen A Soliman NAS; Sahel, José A JA; Salomon, Rémi R; Drummond, Iain A IA; Gubler, Marie-Claire MC; Antignac, Corinne C; Chibout, Salahdine S; Szustakowski, Joseph D JD; Hildebrandt, Friedhelm F; Lorentzen, Esben E; Sailer, Andreas W AW; Benmerah, Alexandre A; Saint-Mezard, Pierre P; Saunier, Sophie S

Publication Date: 2015-10-21

Variant appearance in text: GPR98: 6317C>T; rs186999408

PubMed Link: 26487268

Variant Present in the following documents:

• ncomms9666-s1.pdf

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: GPR98: A2106V

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Journal Of Medical Genetics

Le Quesne Stabej, Polona P; Saihan, Zubin Z; Rangesh, Nell N; Steele-Stallard, Heather B HB; Ambrose, John J; Coffey, Alison A; Emmerson, Jenny J; Haralambous, Elene E; Hughes, Yasmin Y; Steel, Karen P KP; Luxon, Linda M LM; Webster, Andrew R AR; Bitner-Glindzicz, Maria M

Publication Date: 2012-01

Variant appearance in text: GPR98: 6317C>T

PubMed Link: 22135276

Variant Present in the following documents:

• jmedgenet-2011-100468-s5.pdf

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: GPR98: A2106V

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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