Publications:

---

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: 8981G>A; Trp2994Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Investigating Biomarkers for USH2A Retinopathy Using Multimodal Retinal Imaging.

International Journal Of Molecular Sciences

Gill, Jasdeep S JS; Theofylaktopoulos, Vasileios V; Mitsios, Andreas A; Houston, Sarah S; Hagag, Ahmed M AM; Dubis, Adam M AM; Moosajee, Mariya M

Publication Date: 2022-04-11

Variant appearance in text: USH2: 8981G>A

PubMed Link: 35457016

Variant Present in the following documents:

• ijms-23-04198.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: W2994X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

---

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: USH2A: Trp2994*; rs397518041

PubMed Link: 32313182

Variant Present in the following documents:

• Main text
• 42003_2020_Article_885.pdf

View BVdb publication page

---

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

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

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: USH2A: 8981G>A; Trp2994Ter

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: USH2A: W2994X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Journal Of Human Genetics

Yan, Denise D; Ouyang, Xiaomei X; Patterson, D Michael DM; Du, Li Lin LL; Jacobson, Samuel G SG; Liu, Xue-Zhong XZ

Publication Date: 2009-12

Variant appearance in text: USH2A: 8981G>A

PubMed Link: 19881469

Variant Present in the following documents:

• Main text

View BVdb publication page

---