Publications:

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.

Frontiers In Genetics

Salman, Doaa O DO; Mahfouz, Rami R; Bitar, Elio R ER; Samaha, Jinane J; Karam, Pascale E PE

Publication Date: 2022

Variant appearance in text: COX5B: 374A>G; Q125R

PubMed Link: 36468010

Variant Present in the following documents:

• Main text
• fgene-13-1029947.pdf

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: COX5B: 374A>G; Q125R; rs71429371

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: COX5B: Q125R; rs71429371

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: COX5B: 374A>G; Q125R; rs71429371

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Polymorphic variation in cytochrome oxidase subunit genes.

Journal Of Alzheimer'S Disease : Jad

Lu, Jianghua J; Wang, Kaixuan K; Rodova, Mariana M; Esteves, Raquel R; Berry, Diana D; E, Lezi L; Crafter, Adam A; Barrett, Matthew M; Cardoso, Sandra M SM; Onyango, Isaac I; Parker, W Davis WD; Fontes, Joseph J; Burns, Jeffrey M JM; Swerdlow, Russell H RH

Publication Date: 2010

Variant appearance in text: rs71429371

PubMed Link: 20413852

Variant Present in the following documents:

• Main text

View BVdb publication page