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: 14219C>A; Ala4740Asp

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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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: 14219C>A; Ala4740Asp

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.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: USH2A: A4740D; rs539192853

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.

Molecular Vision

Gupta, Priya R PR; Kheir, Wajiha W; Peng, Bo B; Duan, Jie J; Chiang, John P-W JP; Iannaccone, Alessandro A

Publication Date: 2022

Variant appearance in text: USH2A: 14219C>A

PubMed Link: 36284670

Variant Present in the following documents:

• Main text
• mv-v28-203.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: 14219C>A; A4740D; rs539192853

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM2_ESM.xlsx, sheet 1
• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

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

Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,

Publication Date: 2021-11

Variant appearance in text: USH2A: 14219C>A; Ala4740Asp

PubMed Link: 34230634

Variant Present in the following documents:

• NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

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

Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,

Publication Date: 2021-11

Variant appearance in text: USH2A: 14219C>A; Ala4740Asp

PubMed Link: 34230634

Variant Present in the following documents:

• NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2021-04-14

Variant appearance in text: USH2A: A4740D

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Investigative Ophthalmology & Visual Science

Colombo, Leonardo L; Maltese, Paolo E PE; Castori, Marco M; El Shamieh, Said S; Zeitz, Christina C; Audo, Isabelle I; Zulian, Alessandra A; Marinelli, Carla C; Benedetti, Sabrina S; Costantini, Alisia A; Bressan, Simone S; Percio, Marcella M; Ferri, Paolo P; Abeshi, Andi A; Bertelli, Matteo M; Rossetti, Luca L

Publication Date: 2021-02-01

Variant appearance in text: USH2A: 14219C>A; Ala4740Asp; rs539192853

PubMed Link: 33576794

Variant Present in the following documents:

• iovs-62-2-13_s001.xlsx, sheet 8
• iovs-62-2-13_s001.xlsx, sheet 4
• iovs-62-2-13_s001.xlsx, sheet 5

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: A4740D

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: 14219C>A; Ala4740Asp

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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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

Publication Date: 2020-03

Variant appearance in text: USH2A: A4740D

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Scientific Reports

Jespersgaard, Cathrine C; Fang, Mingyan M; Bertelsen, Mette M; Dang, Xiao X; Jensen, Hanne H; Chen, Yulan Y; Bech, Niels N; Dai, Lanlan L; Rosenberg, Thomas T; Zhang, Jianguo J; Møller, Lisbeth Birk LB; Tümer, Zeynep Z; Brøndum-Nielsen, Karen K; Grønskov, Karen K

Publication Date: 2019-02-04

Variant appearance in text: USH2A: 14219C>A; Ala4740Asp

PubMed Link: 30718709

Variant Present in the following documents:

• 41598_2018_38007_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

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

Van Schil, Kristof K; Naessens, Sarah S; Van de Sompele, Stijn S; Carron, Marjolein M; Aslanidis, Alexander A; Van Cauwenbergh, Caroline C; Kathrin Mayer, Anja A; Van Heetvelde, Mattias M; Bauwens, Miriam M; Verdin, Hannah H; Coppieters, Frauke F; Greenberg, Michael E ME; Yang, Marty G MG; Karlstetter, Marcus M; Langmann, Thomas T; De Preter, Katleen K; Kohl, Susanne S; Cherry, Timothy J TJ; Leroy, Bart P BP; , ; De Baere, Elfride E

Publication Date: 2018-02

Variant appearance in text: USH2A: 14219C>A; Ala4740Asp

PubMed Link: 28749477

Variant Present in the following documents:

• gim201797x2.xlsx, sheet 1

View BVdb publication page

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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: Ala4740Asp

PubMed Link: 25649381

Variant Present in the following documents:

• Main text
• ejhg2014283a.pdf

View BVdb publication page

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Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.

Plos One

Licastro, Danilo D; Mutarelli, Margherita M; Peluso, Ivana I; Neveling, Kornelia K; Wieskamp, Nienke N; Rispoli, Rossella R; Vozzi, Diego D; Athanasakis, Emmanouil E; D'Eustacchio, Angela A; Pizzo, Mariateresa M; D'Amico, Francesca F; Ziviello, Carmela C; Simonelli, Francesca F; Fabretto, Antonella A; Scheffer, Hans H; Gasparini, Paolo P; Banfi, Sandro S; Nigro, Vincenzo V

Publication Date: 2012

Variant appearance in text: USH2: A4740D

PubMed Link: 22952768

Variant Present in the following documents:

• Main text
• pone.0043799.s011.xls, sheet 1
• pone.0043799.pdf
• pone.0043799.s013.xls, sheet 1

View BVdb publication page

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