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>C; Gly713Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: USH2A: G713R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

---

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

View BVdb publication page

---

Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.

Molecular Vision

Verdina, Tommaso T; Greenstein, Vivienne C VC; Tsang, Stephen H SH; Murro, Vittoria V; Mucciolo, Dario Pasquale DP; Passerini, Ilaria I; Mastropasqua, Rodolfo R; Cavallini, Gian Maria GM; Virgili, Gianni G; Giansanti, Fabrizio F; Sodi, Andrea A

Publication Date: 2021

Variant appearance in text: USH2A: Gly713Arg

PubMed Link: 33688152

Variant Present in the following documents:

• Main text
• mv-v27-78.pdf

View BVdb publication page

---

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: G713R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

---

Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.

Computational And Structural Biotechnology Journal

Yu, Dongmei D; Zou, Junhuang J; Chen, Qian Q; Zhu, Tian T; Sui, Ruifang R; Yang, Jun J

Publication Date: 2020

Variant appearance in text: USH2A: G713R

PubMed Link: 32637036

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: USH2A: 2137G>C; Gly713Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: USH2A: G713R; rs696723

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

---

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

View BVdb publication page

---

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics

Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH

Publication Date: 2018-10-04

Variant appearance in text: USH2A: 2137G>C; Gly713Arg

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)

Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J

Publication Date: 2018

Variant appearance in text: USH2A: 2137G>C; Gly713Arg; rs696723

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: USH2A: 2137G>C; Gly713Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Molecular Genetics & Genomic Medicine

Dad, Shzeena S; Rendtorff, Nanna Dahl ND; Tranebjærg, Lisbeth L; Grønskov, Karen K; Karstensen, Helena Gásdal HG; Brox, Vigdis V; Nilssen, Øivind Ø; Roux, Anne-Françoise AF; Rosenberg, Thomas T; Jensen, Hanne H; Møller, Lisbeth Birk LB

Publication Date: 2016-09

Variant appearance in text: USH2: 2137G>C

PubMed Link: 27957503

Variant Present in the following documents:

• Main text
• MGG3-4-527.pdf

View BVdb publication page

---

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Investigative Ophthalmology & Visual Science

Roberts, Lisa L; Ratnapriya, Rinki R; du Plessis, Morné M; Chaitankar, Vijender V; Ramesar, Raj S RS; Swaroop, Anand A

Publication Date: 2016-11-01

Variant appearance in text: USH2A: G713R

PubMed Link: 27898983

Variant Present in the following documents:

• iovs-57-14-17_s03.xlsx, sheet 1

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: USH2A: G713R; rs696723

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Complexity and diversity of F8 genetic variations in the 1000 genomes.

Journal Of Thrombosis And Haemostasis : Jth

Li, J N JN; Carrero, I G IG; Dong, J F JF; Yu, F L FL

Publication Date: 2015-11

Variant appearance in text: USH2A: G713R

PubMed Link: 26383047

Variant Present in the following documents:

• Main text

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: USH2A: G713R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clinical Immunology (Orlando, Fla.)

van Schouwenburg, Pauline A PA; Davenport, Emma E EE; Kienzler, Anne-Kathrin AK; Marwah, Ishita I; Wright, Benjamin B; Lucas, Mary M; Malinauskas, Tomas T; Martin, Hilary C HC; , ; Lockstone, Helen E HE; Cazier, Jean-Baptiste JB; Chapel, Helen M HM; Knight, Julian C JC; Patel, Smita Y SY

Publication Date: 2015-10

Variant appearance in text: USH2A: 2137G>C; G713R

PubMed Link: 26122175

Variant Present in the following documents:

• NIHMS64345-supplement-Supplementary_tables.xlsx, sheet 15

View BVdb publication page

---

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: USH2A: G713R; rs696723

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 7

View BVdb publication page

---

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: USH2A: G713R; rs696723

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: USH2A: G713R; rs696723

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: USH2A: G713R; rs696723

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: USH2A: 2137G>C; Gly713Arg

PubMed Link: 23820649

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.

American Journal Of Human Genetics

Xue, Yali Y; Chen, Yuan Y; Ayub, Qasim Q; Huang, Ni N; Ball, Edward V EV; Mort, Matthew M; Phillips, Andrew D AD; Shaw, Katy K; Stenson, Peter D PD; Cooper, David N DN; Tyler-Smith, Chris C; ,

Publication Date: 2012-12-07

Variant appearance in text: USH2A: 2137G>C; Gly713Arg

PubMed Link: 23217326

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: G713R

PubMed Link: 22952768

Variant Present in the following documents:

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

View BVdb publication page

---

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

---

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Orphanet Journal Of Rare Diseases

Garcia-Garcia, Gema G; Aparisi, Maria J MJ; Jaijo, Teresa T; Rodrigo, Regina R; Leon, Ana M AM; Avila-Fernandez, Almudena A; Blanco-Kelly, Fiona F; Bernal, Sara S; Navarro, Rafael R; Diaz-Llopis, Manuel M; Baiget, Montserrat M; Ayuso, Carmen C; Millan, Jose M JM; Aller, Elena E

Publication Date: 2011-10-17

Variant appearance in text: USH2A: 2137G>C

PubMed Link: 22004887

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Structural and functional changes associated with normal and abnormal fundus autofluorescence in patients with retinitis pigmentosa.

Retina (Philadelphia, Pa.)

Greenstein, Vivienne C VC; Duncker, Tobias T; Holopigian, Karen K; Carr, Ronald E RE; Greenberg, Jonathan P JP; Tsang, Stephen H SH; Hood, Donald C DC

Publication Date: 2012-02

Variant appearance in text: USH2A: G713R

PubMed Link: 21909055

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular epidemiology of Usher syndrome in Italy.

Molecular Vision

Vozzi, Diego D; Aaspõllu, Anu A; Athanasakis, Emmanouil E; Berto, Anna A; Fabretto, Antonella A; Licastro, Danilo D; Külm, Maigi M; Testa, Francesco F; Trevisi, Patrizia P; Vahter, Marju M; Ziviello, Carmela C; Martini, Alessandro A; Simonelli, Francesca F; Banfi, Sandro S; Gasparini, Paolo P

Publication Date: 2011

Variant appearance in text: USH2A: 2137G>C; G713R

PubMed Link: 21738395

Variant Present in the following documents:

• Main text
• mv-v17-1662.pdf

View BVdb publication page

---

A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

American Journal Of Ophthalmology

Tsang, Stephen H SH; Tsui, Irena I; Chou, Chai Lin CL; Zernant, Jana J; Haamer, Eneli E; Iranmanesh, Reza R; Tosi, Joaquin J; Allikmets, Rando R

Publication Date: 2008-11

Variant appearance in text: USH2A: G713R

PubMed Link: 18723146

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Journal Of Medical Genetics

Aller, E E; Jaijo, T T; Beneyto, M M; Nájera, C C; Oltra, S S; Ayuso, C C; Baiget, M M; Carballo, M M; Antiñolo, G G; Valverde, D D; Moreno, F F; Vilela, C C; Collado, D D; Pérez-Garrigues, H H; Navea, A A; Millán, J M JM

Publication Date: 2006-11

Variant appearance in text: USH2A: G713R

PubMed Link: 17085681

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Development of a genotyping microarray for Usher syndrome.

Journal Of Medical Genetics

Cremers, Frans P M FP; Kimberling, William J WJ; Külm, Maigi M; de Brouwer, Arjan P AP; van Wijk, Erwin E; te Brinke, Heleen H; Cremers, Cor W R J CW; Hoefsloot, Lies H LH; Banfi, Sandro S; Simonelli, Francesca F; Fleischhauer, Johannes C JC; Berger, Wolfgang W; Kelley, Phil M PM; Haralambous, Elene E; Bitner-Glindzicz, Maria M; Webster, Andrew R AR; Saihan, Zubin Z; De Baere, Elfride E; Leroy, Bart P BP; Silvestri, Giuliana G; McKay, Gareth J GJ; Koenekoop, Robert K RK; Millan, Jose M JM; Rosenberg, Thomas T; Joensuu, Tarja T; Sankila, Eeva-Marja EM; Weil, Dominique D; Weston, Mike D MD; Wissinger, Bernd B; Kremer, Hannie H

Publication Date: 2007-02

Variant appearance in text: USH2A: 2137G>C

PubMed Link: 16963483

Variant Present in the following documents:

• Main text

View BVdb publication page

---