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: USH2A: 11105G>A; Trp3702Ter

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: 11105G>A

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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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: W3702X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

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

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: USH2A: 11105G>A; Trp3702Ter

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: USH2A: 11105G>A; Trp3702*; rs1057519193

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: USH2A: 11105G>A; W3702*

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Scientific Reports

Ge, Zhongqi Z; Bowles, Kristen K; Goetz, Kerry K; Scholl, Hendrik P N HP; Wang, Feng F; Wang, Xinjing X; Xu, Shan S; Wang, Keqing K; Wang, Hui H; Chen, Rui R

Publication Date: 2015-12-15

Variant appearance in text: USH2A: 11105G>A

PubMed Link: 26667666

Variant Present in the following documents:

• srep18287.pdf

View BVdb publication page

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Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Molecular Genetics & Genomic Medicine

Krawitz, Peter M PM; Schiska, Daniela D; Krüger, Ulrike U; Appelt, Sandra S; Heinrich, Verena V; Parkhomchuk, Dmitri D; Timmermann, Bernd B; Millan, Jose M JM; Robinson, Peter N PN; Mundlos, Stefan S; Hecht, Jochen J; Gross, Manfred M

Publication Date: 2014-09

Variant appearance in text: USH2A: Trp3702*

PubMed Link: 25333064

Variant Present in the following documents:

• Main text
• mgg30002-0393.pdf

View BVdb publication page

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