Publications:

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Diagnostics (Basel, Switzerland)

Almes, Marion M; Spraul, Anne A; Ruiz, Mathias M; Girard, Muriel M; Roquelaure, Bertrand B; Laborde, Nolwenn N; Gottrand, Fréderic F; Turquet, Anne A; Lamireau, Thierry T; Dabadie, Alain A; Bonneton, Marjorie M; Thebaut, Alice A; Rohmer, Babara B; Lacaille, Florence F; Broué, Pierre P; Fabre, Alexandre A; Mention-Mulliez, Karine K; Bouligand, Jérôme J; Jacquemin, Emmanuel E; Gonzales, Emmanuel E

Publication Date: 2022-05-07

Variant appearance in text: ABCB4: 2144C>T

PubMed Link: 35626323

Variant Present in the following documents:

• Main text
• diagnostics-12-01169.pdf

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: ABCB4: T715I; rs138773456

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

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Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.

Scientific Reports

Park, Hyo Jin HJ; Kim, Tae Hee TH; Kim, So Won SW; Noh, Shin Hye SH; Cho, Kyeong Jee KJ; Choi, Choe C; Kwon, Eun Young EY; Choi, Yang Ji YJ; Gee, Heon Yung HY; Choi, Ji Ha JH

Publication Date: 2016-06-03

Variant appearance in text: ABCB4: T715I

PubMed Link: 27256251

Variant Present in the following documents:

• Main text
• srep26872.pdf
• srep26872-s1.pdf

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs138773456

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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