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: 11156G>A; Arg3719His
Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
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: 11156G>A; Arg3719His
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Frontiers In Cell And Developmental Biology
Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S
Publication Date: 2023
Variant appearance in text: USH2A: 11156G>A; Arg3719His
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02
Variant appearance in text: USH2A: 11156G>A; Arg3719His
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Genes
Feenstra, Helena M HM; Al-Khuzaei, Saoud S; Shah, Mital M; Broadgate, Suzanne S; Shanks, Morag M; Kamath, Archith A; Yu, Jing J; Jolly, Jasleen K JK; MacLaren, Robert E RE; Clouston, Penny P; Halford, Stephanie S; Downes, Susan M SM
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Scientific Reports
Kim, So Young SY; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Yi, Nayoung N; Kim, Namju Justin NJ; Park, Moo Kyun MK; Keum, Changwon C; Seo, Go Hun GH; Choi, Byung Yoon BY
Publication Date: 2022-07-21
Variant appearance in text: USH2A: 11156G>A; Arg3719His
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: 11156G>A; R3719H; rs527236139
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Scientific Reports
Kim, So Young SY; Lee, Seungmin S; Seo, Go Hun GH; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Park, Moo Kyun MK; Lee, So Min SM; Kim, Bonggi B; Yi, Nayoung N; Kim, Namju Justin NJ; Koh, Doo Hyun DH; Hwang, Sohyun S; Keum, Changwon C; Choi, Byung Yoon BY
Publication Date: 2021-09-30
Variant appearance in text: USH2A: 11156G>A; Arg3719His
Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.
Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-12
Variant appearance in text: USH2A: 11156G>A; Arg3719His
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-03-22
Variant appearance in text: USH2A: 11156G>A; Arg3719His
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
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
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: 11156G>A; Arg3719His
NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.
Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Molecular Genetics & Genomic Medicine
Zenteno, Juan C JC; García-Montaño, Leopoldo A LA; Cruz-Aguilar, Marisa M; Ronquillo, Josué J; Rodas-Serrano, Agustín A; Aguilar-Castul, Luis L; Matsui, Rodrigo R; Vencedor-Meraz, Carlos I CI; Arce-González, Rocío R; Graue-Wiechers, Federico F; Gutiérrez-Paz, Mario M; Urrea-Victoria, Tatiana T; de Dios Cuadras, Ulises U; Chacón-Camacho, Oscar F OF
Publication Date: 2020-01
Variant appearance in text: USH2A: 11156G>A; Arg3719His
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
Scientific Reports
González-Del Pozo, María M; Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; Méndez-Vidal, Cristina C; Chimenea, Ángel Á; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Plos One
Pérez-Carro, Raquel R; Blanco-Kelly, Fiona F; Galbis-Martínez, Lilián L; García-García, Gema G; Aller, Elena E; García-Sandoval, Blanca B; Mínguez, Pablo P; Corton, Marta M; Mahíllo-Fernández, Ignacio I; Martín-Mérida, Inmaculada I; Avila-Fernández, Almudena A; Millán, José M JM; Ayuso, Carmen C
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: 11156G>A; R3719H; rs527236139
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
European Journal Of Human Genetics : Ejhg
Haer-Wigman, Lonneke L; van Zelst-Stams, Wendy Ag WA; Pfundt, Rolph R; van den Born, L Ingeborgh LI; Klaver, Caroline Cw CC; Verheij, Joke Bgm JB; Hoyng, Carel B CB; Breuning, Martijn H MH; Boon, Camiel Jf CJ; Kievit, Anneke J AJ; Verhoeven, Virginie Jm VJ; Pott, Jan Wr JW; Sallevelt, Suzanne Ceh SC; van Hagen, Johanna M JM; Plomp, Astrid S AS; Kroes, Hester Y HY; Lelieveld, Stefan H SH; Hehir-Kwa, Jayne Y JY; Castelein, Steven S; Nelen, Marcel M; Scheffer, Hans H; Lugtenberg, Dorien D; Cremers, Frans Pm FP; Hoefsloot, Lies L; Yntema, Helger G HG
Publication Date: 2017-05
Variant appearance in text: USH2A: 11156G>A; Arg3719His
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Scientific Reports
Bravo-Gil, Nereida N; González-Del Pozo, María M; Martín-Sánchez, Marta M; Méndez-Vidal, Cristina C; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G
Publication Date: 2017-02-03
Variant appearance in text: USH2A: 11156G>A; R3719H
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: USH2A: 11156G>A; R3719H
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
European Journal Of Human Genetics : Ejhg
Lenassi, Eva E; Vincent, Ajoy A; Li, Zheng Z; Saihan, Zubin Z; Coffey, Alison J AJ; Steele-Stallard, Heather B HB; Moore, Anthony T AT; Steel, Karen P KP; Luxon, Linda M LM; Héon, Elise E; Bitner-Glindzicz, Maria M; Webster, Andrew R AR
Publication Date: 2015-10
Variant appearance in text: USH2A: 11156G>A; Arg3719His
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
Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.
The integrated landscape of driver genomic alterations in glioblastoma.
Nature Genetics
Frattini, Veronique V; Trifonov, Vladimir V; Chan, Joseph Minhow JM; Castano, Angelica A; Lia, Marie M; Abate, Francesco F; Keir, Stephen T ST; Ji, Alan X AX; Zoppoli, Pietro P; Niola, Francesco F; Danussi, Carla C; Dolgalev, Igor I; Porrati, Paola P; Pellegatta, Serena S; Heguy, Adriana A; Gupta, Gaurav G; Pisapia, David J DJ; Canoll, Peter P; Bruce, Jeffrey N JN; McLendon, Roger E RE; Yan, Hai H; Aldape, Ken K; Finocchiaro, Gaetano G; Mikkelsen, Tom T; Privé, Gilbert G GG; Bigner, Darell D DD; Lasorella, Anna A; Rabadan, Raul R; Iavarone, Antonio A