Publications:

Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: SCN1A: R535H

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Frontiers In Neuroscience

Fernández-Marmiesse, Ana A; Roca, Iria I; Díaz-Flores, Felícitas F; Cantarín, Verónica V; Pérez-Poyato, Mª Socorro MS; Fontalba, Ana A; Laranjeira, Francisco F; Quintans, Sofia S; Moldovan, Oana O; Felgueroso, Blanca B; Rodríguez-Pedreira, Montserrat M; Simón, Rogelio R; Camacho, Ana A; Quijada, Pilar P; Ibanez-Mico, Salvador S; Domingno, Mª Rosario MR; Benito, Carmen C; Calvo, Rocío R; Pérez-Cejas, Antonia A; Carrasco, Mª Llanos ML; Ramos, Feliciano F; Couce, Mª Luz ML; Ruiz-Falcó, Mª Luz ML; Gutierrez-Solana, Luis L; Martínez-Atienza, Margarita M

Publication Date: 2019

Variant appearance in text: SCN1A: 1604G>A; R535H; rs184524479

PubMed Link: 31780880

Variant Present in the following documents:

• Main text
• fnins-13-01135.pdf

View BVdb publication page

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: 1604G>A; Arg535Gln

PubMed Link: 30755392

Variant Present in the following documents:

• MCS003756Ji.pdf

View BVdb publication page

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: SCN1A: R535H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page