Publications:

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

Molecular Genetics & Genomic Medicine

Said, Mariem Ben MB; Ayed, Ikhlas Ben IB; Elloumi, Ines I; Hasnaoui, Mehdi M; Souissi, Amal A; Idriss, Nabil N; Aloulou, Hajer H; Chabchoub, Imen I; Maâlej, Bayen B; Driss, Dorra D; Masmoudi, Saber S

Publication Date: 2022-01-08

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

PubMed Link: 34997822

Variant Present in the following documents:

• Main text
• MGG3-10-e1868.pdf

View BVdb publication page

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

Molecular Genetics & Genomic Medicine

Said, Mariem Ben MB; Ayed, Ikhlas Ben IB; Elloumi, Ines I; Hasnaoui, Mehdi M; Souissi, Amal A; Idriss, Nabil N; Aloulou, Hajer H; Chabchoub, Imen I; Maâlej, Bayen B; Driss, Dorra D; Masmoudi, Saber S

Publication Date: 2022-02

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

PubMed Link: 34997822

Variant Present in the following documents:

• Main text
• MGG3-10-e1868.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: Y4862X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page