Publications:

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: 2137G>A; Gly713Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: rs696723

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?

International Journal Of Molecular Sciences

Donato, Luigi L; Scimone, Concetta C; Alibrandi, Simona S; Abdalla, Ebtesam Mohamed EM; Nabil, Karim Mahmoud KM; D'Angelo, Rosalia R; Sidoti, Antonina A

Publication Date: 2020-12-23

Variant appearance in text: USH2A: G713S; rs696723

PubMed Link: 33374679

Variant Present in the following documents:

• Main text
• ijms-22-00070.pdf

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs696723

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Investigative Ophthalmology & Visual Science

Song, Jin J; Smaoui, Nizar N; Ayyagari, Radha R; Stiles, David D; Benhamed, Sonia S; MacDonald, Ian M IM; Daiger, Stephen P SP; Tumminia, Santa J SJ; Hejtmancik, Fielding F; Wang, Xinjing X

Publication Date: 2011-11-25

Variant appearance in text: rs696723

PubMed Link: 22025579

Variant Present in the following documents:

• Main text

View BVdb publication page