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: 13709G>A; Arg4570His

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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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: USH2: 13709G>A

PubMed Link: 36785559

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

Genes

Clabout, Thomas T; Maes, Laurence L; Acke, Frederic F; Wuyts, Wim W; Van Schil, Kristof K; Coucke, Paul P; Janssens, Sandra S; De Leenheer, Els E

Publication Date: 2022-12-29

Variant appearance in text: USH2A: 13709G>A; Arg4570His

PubMed Link: 36672845

Variant Present in the following documents:

• genes-14-00105.pdf

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: USH2A: 13709G>A; R4570H

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: N/A

PubMed Link: 36413997

Variant Present in the following documents:

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: USH2A: 13709G>A; Arg4570His; rs730254

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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: rs730254

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors.

Theranostics

Shi, Zhiwen Z; Shen, Jianfeng J; Qiu, Junjun J; Zhao, Qingguo Q; Hua, Keqin K; Wang, Hongyan H

Publication Date: 2021

Variant appearance in text: USH2A: 13709G>A; R4570H

PubMed Link: 34158843

Variant Present in the following documents:

• thnov11p7175s3.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: USH2A: R4570H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: USH2A: R4570H; rs730254

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: USH2A: R4570H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 15

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: USH2A: 13709G>A; Arg4570His

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: USH2A: 13709G>A; Arg4570His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: USH2A: R4570H

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)

Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J

Publication Date: 2018

Variant appearance in text: USH2A: 13709G>A; Arg4570His; rs730254

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.pdf

View BVdb publication page

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Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Nature Medicine

Broutier, Laura L; Mastrogiovanni, Gianmarco G; Verstegen, Monique Ma MM; Francies, Hayley E HE; Gavarró, Lena Morrill LM; Bradshaw, Charles R CR; Allen, George E GE; Arnes-Benito, Robert R; Sidorova, Olga O; Gaspersz, Marcia P MP; Georgakopoulos, Nikitas N; Koo, Bon-Kyoung BK; Dietmann, Sabine S; Davies, Susan E SE; Praseedom, Raaj K RK; Lieshout, Ruby R; IJzermans, Jan N M JNM; Wigmore, Stephen J SJ; Saeb-Parsy, Kourosh K; Garnett, Mathew J MJ; van der Laan, Luc Jw LJ; Huch, Meritxell M

Publication Date: 2017-12

Variant appearance in text: USH2A: 13709G>A; Arg4570His

PubMed Link: 29131160

Variant Present in the following documents:

• NIHMS74480-supplement-Supplementary_Dataset_4.xlsx, sheet 12

View BVdb publication page

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DNA defects, epigenetics, and gene expression in cancer-adjacent breast: a study from The Cancer Genome Atlas.

Npj Breast Cancer

Troester, Melissa A MA; Hoadley, Katherine A KA; D'Arcy, Monica M; Cherniack, Andrew D AD; Stewart, Chip C; Koboldt, Daniel C DC; Robertson, A Gordon AG; Mahurkar, Swapna S; Shen, Hui H; Wilkerson, Matthew D MD; Sandhu, Rupninder R; Johnson, Nicole B NB; Allison, Kimberly H KH; Beck, Andrew H AH; Yau, Christina C; Bowen, Jay J; Sheth, Margi M; Hwang, E Shelley ES; Perou, Charles M CM; Laird, Peter W PW; Ding, Li L; Benz, Christopher C CC

Publication Date: 2016

Variant appearance in text: USH2A: R4570H

PubMed Link: 28721375

Variant Present in the following documents:

• npjbcancer20167-s5.xls, sheet 2
• npjbcancer20167-s5.xls, sheet 3

View BVdb publication page

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Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.

Oncotarget

Cifola, Ingrid I; Lionetti, Marta M; Pinatel, Eva E; Todoerti, Katia K; Mangano, Eleonora E; Pietrelli, Alessandro A; Fabris, Sonia S; Mosca, Laura L; Simeon, Vittorio V; Petrucci, Maria Teresa MT; Morabito, Fortunato F; Offidani, Massimo M; Di Raimondo, Francesco F; Falcone, Antonietta A; Caravita, Tommaso T; Battaglia, Cristina C; De Bellis, Gianluca G; Palumbo, Antonio A; Musto, Pellegrino P; Neri, Antonino A

Publication Date: 2015-07-10

Variant appearance in text: USH2A: R4570H; rs730254

PubMed Link: 26046463

Variant Present in the following documents:

• oncotarget-06-17543-s002.xls, sheet 1

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: USH2A: R4570H; rs730254

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics

McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL

Publication Date: 2010-07

Variant appearance in text: USH2: 13709G>A

PubMed Link: 20507924

Variant Present in the following documents:

• Main text

View BVdb publication page

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