Publications:

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Medrxiv : The Preprint Server For Health Sciences

Abul-Husn, Noura S NS; Marathe, Priya N PN; Kelly, Nicole R NR; Bonini, Katherine E KE; Sebastin, Monisha M; Odgis, Jacqueline A JA; Abhyankar, Avinash A; Brown, Kaitlyn K; Di Biase, Miranda M; Gallagher, Katie M KM; Guha, Saurav S; Ioele, Nicolette N; Okur, Volkan V; Ramos, Michelle A MA; Rodriguez, Jessica E JE; Rehman, Atteeq U AU; Thomas-Wilson, Amanda A; Edelmann, Lisa L; Zinberg, Randi E RE; Diaz, George A GA; Greally, John M JM; Jobanputra, Vaidehi V; Suckiel, Sabrina A SA; Horowitz, Carol R CR; Wasserstein, Melissa P MP; Kenny, Eimear E EE; Gelb, Bruce D BD

Publication Date: 2023-03-20

Variant appearance in text: RET: 430C>T; Arg144Trp

PubMed Link: 36993157

Variant Present in the following documents:

• media-4.pdf

View BVdb publication page

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: RET: 430C>T; R144C

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page