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: USH2A: 14020A>G; Arg4674Gly

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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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: USH2A: 14020A>G; Arg4674Gly

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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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Hgg Advances

Reurink, Janine J; Weisschuh, Nicole N; Garanto, Alejandro A; Dockery, Adrian A; van den Born, L Ingeborgh LI; Fajardy, Isabelle I; Haer-Wigman, Lonneke L; Kohl, Susanne S; Wissinger, Bernd B; Farrar, G Jane GJ; Ben-Yosef, Tamar T; Pfiffner, Fatma Kivrak FK; Berger, Wolfgang W; Weener, Marianna E ME; Dudakova, Lubica L; Liskova, Petra P; Sharon, Dror D; Salameh, Manar M; Offenheim, Ashley A; Heon, Elise E; Girotto, Giorgia G; Gasparini, Paolo P; Morgan, Anna A; Bergen, Arthur A AA; Ten Brink, Jacoline B JB; Klaver, Caroline C W CCW; Tranebjærg, Lisbeth L; Rendtorff, Nanna D ND; Vermeer, Sascha S; Smits, Jeroen J JJ; Pennings, Ronald J E RJE; Aben, Marco M; Oostrik, Jaap J; Astuti, Galuh D N GDN; Corominas Galbany, Jordi J; Kroes, Hester Y HY; Phan, Milan M; van Zelst-Stams, Wendy A G WAG; Thiadens, Alberta A H J AAHJ; Verheij, Joke B G M JBGM; van Schooneveld, Mary J MJ; de Bruijn, Suzanne E SE; Li, Catherina H Z CHZ; Hoyng, Carel B CB; Gilissen, Christian C; Vissers, Lisenka E L M LELM; Cremers, Frans P M FPM; Kremer, Hannie H; van Wijk, Erwin E; Roosing, Susanne S

Publication Date: 2023-04-13

Variant appearance in text: USH2A: 14020A>G

PubMed Link: 36785559

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.xlsx, sheet 1
• mmc4.pdf

View BVdb publication page

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Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology

Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD

Publication Date: 2022-03-26

Variant appearance in text: USH2A: 14020A>G; Arg4674Gly; rs80338904

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes.

Embo Molecular Medicine

Grotz, Sophia S; Schäfer, Jessica J; Wunderlich, Kirsten A KA; Ellederova, Zdenka Z; Auch, Hannah H; Bähr, Andrea A; Runa-Vochozkova, Petra P; Fadl, Janet J; Arnold, Vanessa V; Ardan, Taras T; Veith, Miroslav M; Santamaria, Gianluca G; Dhom, Georg G; Hitzl, Wolfgang W; Kessler, Barbara B; Eckardt, Christian C; Klein, Joshua J; Brymova, Anna A; Linnert, Joshua J; Kurome, Mayuko M; Zakharchenko, Valeri V; Fischer, Andrea A; Blutke, Andreas A; Döring, Anna A; Suchankova, Stepanka S; Popelar, Jiri J; Rodríguez-Bocanegra, Eduardo E; Dlugaiczyk, Julia J; Straka, Hans H; May-Simera, Helen H; Wang, Weiwei W; Laugwitz, Karl-Ludwig KL; Vandenberghe, Luk H LH; Wolf, Eckhard E; Nagel-Wolfrum, Kerstin K; Peters, Tobias T; Motlik, Jan J; Fischer, M Dominik MD; Wolfrum, Uwe U; Klymiuk, Nikolai N

Publication Date: 2022-04-07

Variant appearance in text: USH2: R4674G

PubMed Link: 35254721

Variant Present in the following documents:

• EMMM-14-e14817-s001.pdf

View BVdb publication page

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A novel statistical method for interpreting the pathogenicity of rare variants.

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

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: R4674G

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: USH2A: 14020A>G; Arg4674Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Integrated Proteogenomic Characterization of Clear Cell Renal Cell Carcinoma.

Cell

Clark, David J DJ; Dhanasekaran, Saravana M SM; Petralia, Francesca F; Pan, Jianbo J; Song, Xiaoyu X; Hu, Yingwei Y; da Veiga Leprevost, Felipe F; Reva, Boris B; Lih, Tung-Shing M TM; Chang, Hui-Yin HY; Ma, Weiping W; Huang, Chen C; Ricketts, Christopher J CJ; Chen, Lijun L; Krek, Azra A; Li, Yize Y; Rykunov, Dmitry D; Li, Qing Kay QK; Chen, Lin S LS; Ozbek, Umut U; Vasaikar, Suhas S; Wu, Yige Y; Yoo, Seungyeul S; Chowdhury, Shrabanti S; Wyczalkowski, Matthew A MA; Ji, Jiayi J; Schnaubelt, Michael M; Kong, Andy A; Sethuraman, Sunantha S; Avtonomov, Dmitry M DM; Ao, Minghui M; Colaprico, Antonio A; Cao, Song S; Cho, Kyung-Cho KC; Kalayci, Selim S; Ma, Shiyong S; Liu, Wenke W; Ruggles, Kelly K; Calinawan, Anna A; Gümüş, Zeynep H ZH; Geiszler, Daniel D; Kawaler, Emily E; Teo, Guo Ci GC; Wen, Bo B; Zhang, Yuping Y; Keegan, Sarah S; Li, Kai K; Chen, Feng F; Edwards, Nathan N; Pierorazio, Phillip M PM; Chen, Xi Steven XS; Pavlovich, Christian P CP; Hakimi, A Ari AA; Brominski, Gabriel G; Hsieh, James J JJ; Antczak, Andrzej A; Omelchenko, Tatiana T; Lubinski, Jan J; Wiznerowicz, Maciej M; Linehan, W Marston WM; Kinsinger, Christopher R CR; Thiagarajan, Mathangi M; Boja, Emily S ES; Mesri, Mehdi M; Hiltke, Tara T; Robles, Ana I AI; Rodriguez, Henry H; Qian, Jiang J; Fenyö, David D; Zhang, Bing B; Ding, Li L; Schadt, Eric E; Chinnaiyan, Arul M AM; Zhang, Zhen Z; Omenn, Gilbert S GS; Cieslik, Marcin M; Chan, Daniel W DW; Nesvizhskii, Alexey I AI; Wang, Pei P; Zhang, Hui H; ,

Publication Date: 2019-10-31

Variant appearance in text: USH2A: R4674G

PubMed Link: 31675502

Variant Present in the following documents:

• NIHMS1597713-supplement-Table_S7.xlsx, sheet 20

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: USH2A: R4674G; rs80338904

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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: USH2A: 14020A>G; Arg4674Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: USH2A: R4674G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: RP39: R4674G

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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