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: 10628G>A; Arg3543His

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: R3543H; rs759338880

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.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: rs759338880

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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Human Lung Adenocarcinoma-Derived Organoid Models for Drug Screening.

Iscience

Li, Zhichao Z; Qian, Youhui Y; Li, Wujiao W; Liu, Lisa L; Yu, Lei L; Liu, Xia X; Wu, Guodong G; Wang, Youyu Y; Luo, Weibin W; Fang, Fuyuan F; Liu, Yuchen Y; Song, Fei F; Cai, Zhiming Z; Chen, Wei W; Huang, Weiren W

Publication Date: 2020-08-21

Variant appearance in text: USH2A: 10628G>A; Arg3543His

PubMed Link: 32771979

Variant Present in the following documents:

• mmc2.xls, sheet 1

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Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Cancer Science

Yasuda, Takahiko T; Sanada, Masashi M; Nishijima, Dai D; Kanamori, Takashi T; Iijima, Yuka Y; Hattori, Hiroyoshi H; Saito, Akiko A; Miyoshi, Hiroaki H; Ishikawa, Yuichi Y; Asou, Norio N; Usuki, Kensuke K; Hirabayashi, Shinsuke S; Kato, Motohiro M; Ri, Masaki M; Handa, Hiroshi H; Ishida, Tadao T; Shibayama, Hirohiko H; Abe, Masahiro M; Iriyama, Chisako C; Karube, Kennosuke K; Nishikori, Momoko M; Ohshima, Koichi K; Kataoka, Keisuke K; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Goto, Hiroaki H; Adachi, Souichi S; Kobayashi, Ryoji R; Kiyoi, Hitoshi H; Miyazaki, Yasushi Y; Ogawa, Seishi S; Kurahashi, Hiroki H; Yokoyama, Hisayuki H; Manabe, Atsushi A; Iida, Shinsuke S; Tomita, Akihiro A; Horibe, Keizo K

Publication Date: 2020-09

Variant appearance in text: USH2A: R3543H

PubMed Link: 32619037

Variant Present in the following documents:

• CAS-111-3367-s004.xlsx, sheet 4

View BVdb publication page