Publications:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: LONP1: 2116G>A; Glu706Lys; rs756295706

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer.

Nature Communications

Pereira, Bernard B; Chen, Christopher T CT; Goyal, Lipika L; Walmsley, Charlotte C; Pinto, Christopher J CJ; Baiev, Islam I; Allen, Read R; Henderson, Laura L; Saha, Supriya S; Reyes, Stephanie S; Taylor, Martin S MS; Fitzgerald, Donna M DM; Broudo, Maida Williams MW; Sahu, Avinash A; Gao, Xin X; Winckler, Wendy W; Brannon, A Rose AR; Engelman, Jeffrey A JA; Leary, Rebecca R; Stone, James R JR; Campbell, Catarina D CD; Juric, Dejan D

Publication Date: 2021-05-27

Variant appearance in text: LONP1: E706K

PubMed Link: 34045463

Variant Present in the following documents:

• 41467_2021_23394_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: LONP1: E706K

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page