Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: USH2A: 7524del; Arg2509fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: 7524del; Arg2509Glyfs*19

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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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: 7524delT

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: 2021-03-22

Variant appearance in text: USH2A: 7524delT

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

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: 7524delT

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Scientific Reports

Jauregui, Ruben R; Chan, Lawrence L; Oh, Jin Kyun JK; Cho, Ahra A; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-02-25

Variant appearance in text: USH2A: 7524del

PubMed Link: 32098976

Variant Present in the following documents:

• 41598_2020_60137_MOESM1_ESM.pdf

View BVdb publication page

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Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations.

Anais Brasileiros De Dermatologia

Hegazi, Moustafa Abdelaal MA; Manou, Sommen S; Sakr, Hazem H; Camp, Guy Van GV

Publication Date: 2017

Variant appearance in text: USH2A: 7522delT; Arg2509Glyfs*19

PubMed Link: 29267478

Variant Present in the following documents:

• Main text
• abd-92-05-s1-0154.pdf

View BVdb publication page

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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: 7524delT

PubMed Link: 27957503

Variant Present in the following documents:

• Main text
• MGG3-4-527.pdf

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: USH2A: 7524delT; Arg2509fs

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Orphanet Journal Of Rare Diseases

Bonnet, Crystel C; Grati, M'hamed M; Marlin, Sandrine S; Levilliers, Jacqueline J; Hardelin, Jean-Pierre JP; Parodi, Marine M; Niasme-Grare, Magali M; Zelenika, Diana D; Délépine, Marc M; Feldmann, Delphine D; Jonard, Laurence L; El-Amraoui, Aziz A; Weil, Dominique D; Delobel, Bruno B; Vincent, Christophe C; Dollfus, Hélène H; Eliot, Marie-Madeleine MM; David, Albert A; Calais, Catherine C; Vigneron, Jacqueline J; Montaut-Verient, Bettina B; Bonneau, Dominique D; Dubin, Jacques J; Thauvin, Christel C; Duvillard, Alain A; Francannet, Christine C; Mom, Thierry T; Lacombe, Didier D; Duriez, Françoise F; Drouin-Garraud, Valérie V; Thuillier-Obstoy, Marie-Françoise MF; Sigaudy, Sabine S; Frances, Anne-Marie AM; Collignon, Patrick P; Challe, Georges G; Couderc, Rémy R; Lathrop, Mark M; Sahel, José-Alain JA; Weissenbach, Jean J; Petit, Christine C; Denoyelle, Françoise F

Publication Date: 2011-05-11

Variant appearance in text: USH2: 7522delT

PubMed Link: 21569298

Variant Present in the following documents:

• Main text
• 1750-1172-6-21.pdf

View BVdb publication page

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