Publications:

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.

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

Rajagopalan, Ramakrishnan R; Gilbert, Melissa A MA; McEldrew, Deborah A DA; Nassur, James A JA; Loomes, Kathleen M KM; Piccoli, David A DA; Krantz, Ian D ID; Conlin, Laura K LK; Spinner, Nancy B NB

Publication Date: 2021-02

Variant appearance in text: JAG1: 401T>C; L134S

PubMed Link: 33077891

Variant Present in the following documents:

• Main text
• 41436_2020_Article_989.pdf
• 41436_2020_989_MOESM1_ESM.pdf

View BVdb publication page

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Human Mutation

Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB

Publication Date: 2019-12

Variant appearance in text: JAG1: Leu134Ser

PubMed Link: 31343788

Variant Present in the following documents:

• Main text
• HUMU-40-2197-s001.pdf
• HUMU-40-2197.pdf

View BVdb publication page