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: 13018G>C; Gly4340Arg

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: 13018G>C; Gly4340Arg

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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Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Human Genetics

Bahena, Paulina P; Daftarian, Narsis N; Maroofian, Reza R; Linares, Paola P; Villalobos, Daniel D; Mirrahimi, Mehraban M; Rad, Aboulfazl A; Doll, Julia J; Hofrichter, Michaela A H MAH; Koparir, Asuman A; Röder, Tabea T; Han, Seungbin S; Sabbaghi, Hamideh H; Ahmadieh, Hamid H; Behboudi, Hassan H; Villanueva-Mendoza, Cristina C; Cortés-Gonzalez, Vianney V; Zamora-Ortiz, Rocio R; Kohl, Susanne S; Kuehlewein, Laura L; Darvish, Hossein H; Alehabib, Elham E; Arenas-Sordo, Maria de la Luz ML; Suri, Fatemeh F; Vona, Barbara B; Haaf, Thomas T

Publication Date: 2022-04

Variant appearance in text: USH2A: 13018G>C

PubMed Link: 34148116

Variant Present in the following documents:

• Main text
• 439_2021_2303_MOESM1_ESM.pdf
• 439_2021_Article_2303.pdf

View BVdb publication page

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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: 13018G>C; Gly4340Arg

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

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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: 13018G>C; Gly4340Arg

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

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USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.

Diagnostics (Basel, Switzerland)

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Savastano, Maria Cristina MC; Minnella, Angelo Maria AM; Maceroni, Martina M; Midena, Giulia G; Ziccardi, Lucia L; Parisi, Vincenzo V; Bertelli, Matteo M; Maltese, Paolo Enrico PE; Chiurazzi, Pietro P; Rizzo, Stanislao S

Publication Date: 2021-02-01

Variant appearance in text: USH2A: 13018G>C

PubMed Link: 33535592

Variant Present in the following documents:

• Main text
• diagnostics-11-00213.pdf

View BVdb publication page

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