Publications:

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Cold Spring Harbor Molecular Case Studies

Ji, Jianling J; Shen, Lishuang L; Bootwalla, Moiz M; Quindipan, Catherine C; Tatarinova, Tatiana T; Maglinte, Dennis T DT; Buckley, Jonathan J; Raca, Gordana G; Saitta, Sulagna C SC; Biegel, Jaclyn A JA; Gai, Xiaowu X

Publication Date: 2019-04

Variant appearance in text: SCN1A: 3327dupC; Ser1110Glnfs*14

PubMed Link: 30755392

Variant Present in the following documents:

• Main text
• supp_mcs.a003756_Supplemental_Table_1.xlsx, sheet 1
• MCS003756Ji.pdf

View BVdb publication page