Publications:

The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics

Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE

Publication Date: 2023-05-01

Variant appearance in text: USH2A: 14586T>G; Tyr4862*

PubMed Link: 37127645

Variant Present in the following documents:

• 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1

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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: Y4862X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Human Genetics

Yan, Denise D; Tekin, Demet D; Bademci, Guney G; Foster, Joseph J; Cengiz, F Basak FB; Kannan-Sundhari, Abhiraami A; Guo, Shengru S; Mittal, Rahul R; Zou, Bing B; Grati, Mhamed M; Kabahuma, Rosemary I RI; Kameswaran, Mohan M; Lasisi, Taye J TJ; Adedeji, Waheed A WA; Lasisi, Akeem O AO; Menendez, Ibis I; Herrera, Marianna M; Carranza, Claudia C; Maroofian, Reza R; Crosby, Andrew H AH; Bensaid, Mariem M; Masmoudi, Saber S; Behnam, Mahdiyeh M; Mojarrad, Majid M; Feng, Yong Y; Duman, Duygu D; Mawla, Alex M AM; Nord, Alex S AS; Blanton, Susan H SH; Liu, Xue Z XZ; Tekin, Mustafa M

Publication Date: 2016-08

Variant appearance in text: USH2A: 14586T>G; Y4862*

PubMed Link: 27344577

Variant Present in the following documents:

• Main text

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