Publications:

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Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Jhep Reports : Innovation In Hepatology

Felzen, Antonia A; van Wessel, Daan B E DBE; Gonzales, Emmanuel E; Thompson, Richard J RJ; Jankowska, Irena I; Shneider, Benjamin L BL; Sokal, Etienne E; Grammatikopoulos, Tassos T; Kadaristiana, Agustina A; Jacquemin, Emmanuel E; Spraul, Anne A; Lipiński, Patryk P; Czubkowski, Piotr P; Rock, Nathalie N; Shagrani, Mohammad M; Broering, Dieter D; Nicastro, Emanuele E; Kelly, Deirdre D; Nebbia, Gabriella G; Arnell, Henrik H; Fischler, Björn B; Hulscher, Jan B F JBF; Serranti, Daniele D; Arikan, Cigdem C; Polat, Esra E; Debray, Dominique D; Lacaille, Florence F; Goncalves, Cristina C; Hierro, Loreto L; Muñoz Bartolo, Gema G; Mozer-Glassberg, Yael Y; Azaz, Amer A; Brecelj, Jernej J; Dezsőfi, Antal A; Calvo, Pier Luigi PL; Grabhorn, Enke E; Hartleif, Steffen S; van der Woerd, Wendy J WJ; Kamath, Binita M BM; Wang, Jian-She JS; Li, Liting L; Durmaz, Özlem Ö; Kerkar, Nanda N; Jørgensen, Marianne Hørby MH; Fischer, Ryan R; Jimenez-Rivera, Carolina C; Alam, Seema S; Cananzi, Mara M; Laverdure, Noemie N; Ferreira, Cristina Targa CT; Guerrero, Felipe Ordoñez FO; Wang, Heng H; Sency, Valerie V; Kim, Kyung Mo KM; Chen, Huey-Ling HL; de Carvalho, Elisa E; Fabre, Alexandre A; Bernabeu, Jesus Quintero JQ; Zellos, Aglaia A; Alonso, Estella M EM; Sokol, Ronald J RJ; Suchy, Frederick J FJ; Loomes, Kathleen M KM; McKiernan, Patrick J PJ; Rosenthal, Philip P; Turmelle, Yumirle Y; Horslen, Simon S; Schwarz, Kathleen K; Bezerra, Jorge A JA; Wang, Kasper K; Hansen, Bettina E BE; Verkade, Henkjan J HJ; ,

Publication Date: 2023-02

Variant appearance in text: BSEP: 3268C>T

PubMed Link: 36687469

Variant Present in the following documents:

• mmc1.pdf
• mmc4.pdf

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: ABCB11: 3268C>T; Arg1090Ter

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: ABCB11: 3268C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies.

World Journal Of Hepatology

Alam, Seema S; Lal, Bikrant Bihari BB

Publication Date: 2022-01-27

Variant appearance in text: BSEP: R1090X

PubMed Link: 35126842

Variant Present in the following documents:

• Main text
• WJH-14-98.pdf

View BVdb publication page

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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology

da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S

Publication Date: 2021

Variant appearance in text: rs72549396

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: ABCB11: 3268C>T; R1090X; rs72549396

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: ABCB11: 3268C>T; R1090X

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

View BVdb publication page

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The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.

International Journal Of Molecular Sciences

Sohail, Muhammad Imran MI; Dönmez-Cakil, Yaprak Y; Szöllősi, Dániel D; Stockner, Thomas T; Chiba, Peter P

Publication Date: 2021-01-14

Variant appearance in text: BSEP: R1090X

PubMed Link: 33466755

Variant Present in the following documents:

• Main text

View BVdb publication page

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Modeling Human Bile Acid Transport and Synthesis in Stem Cell-Derived Hepatocytes with a Patient-Specific Mutation.

Stem Cell Reports

Hayashi, Hisamitsu H; Osaka, Shuhei S; Sakabe, Kokoro K; Fukami, Aiko A; Kishimoto, Eriko E; Aihara, Eitaro E; Sabu, Yusuke Y; Mizutani, Ayumu A; Kusuhara, Hiroyuki H; Naritaka, Nakayuki N; Zhang, Wujuan W; Huppert, Stacey S SS; Sakabe, Masahide M; Nakamura, Takahisa T; Hu, Yueh-Chiang YC; Mayhew, Christopher C; Setchell, Kenneth K; Takebe, Takanori T; Asai, Akihiro A

Publication Date: 2021-02-09

Variant appearance in text: ABCB11: 3268C>T

PubMed Link: 33450190

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: ABCB11: 3268C>T; R1090*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: ABCB11: 3268C>T; R1090X; rs72549396

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs72549396

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Zebrafish abcb11b mutant reveals strategies to restore bile excretion impaired by bile salt export pump deficiency.

Hepatology (Baltimore, Md.)

Ellis, Jillian L JL; Bove, Kevin E KE; Schuetz, Erin G EG; Leino, Daniel D; Valencia, C Alexander CA; Schuetz, John D JD; Miethke, Alexander A; Yin, Chunyue C

Publication Date: 2018-04

Variant appearance in text: ABCB11: 3268C>T

PubMed Link: 29091294

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: ABCB11: 3268C>T; Arg1090*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs72549396

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs72549396

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.

The American Journal Of Surgical Pathology

Evason, Kimberley K; Bove, Kevin E KE; Finegold, Milton J MJ; Knisely, A S AS; Rhee, Sue S; Rosenthal, Philip P; Miethke, Alexander G AG; Karpen, Saul J SJ; Ferrell, Linda D LD; Kim, Grace E GE

Publication Date: 2011-05

Variant appearance in text: BSEP: 3268C>T

PubMed Link: 21490445

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of gene mutations in children with cholestasis of undefined etiology.

Journal Of Pediatric Gastroenterology And Nutrition

Matte, Ursula U; Mourya, Reena R; Miethke, Alexander A; Liu, Cong C; Kauffmann, Gregory G; Moyer, Katie K; Zhang, Kejian K; Bezerra, Jorge A JA

Publication Date: 2010-10

Variant appearance in text: ABCB11: R1090X

PubMed Link: 20683201

Variant Present in the following documents:

• Main text

View BVdb publication page

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