Publications:

---

A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.

Jhep Reports : Innovation In Hepatology

Biyoukar, Moustafa M; Corpechot, Christophe C; El Mouhadi, Sanaâ S; Chambenois, Edouard E; Vanderbecq, Quentin Q; Barbu, Véronique V; Dong, Catherine C; Lemoinne, Sara S; Tordjman, Mickael M; Jomaah, Raphel R; Chazouilleres, Olivier O; Arrivé, Lionel L

Publication Date: 2022-11

Variant appearance in text: ABCB4: 2800G>A; Ala934Thr

PubMed Link: 36277956

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.

Hepatology Communications

Nayagam, Jeremy S JS; Foskett, Pierre P; Strautnieks, Sandra S; Agarwal, Kosh K; Miquel, Rosa R; Joshi, Deepak D; Thompson, Richard J RJ

Publication Date: 2022-10

Variant appearance in text: ABCB4: 2800G>A

PubMed Link: 35894240

Variant Present in the following documents:

• Main text
• HEP4-6-2654.pdf

View BVdb publication page

---

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: 2800G>A

PubMed Link: 35626323

Variant Present in the following documents:

• Main text
• diagnostics-12-01169.pdf

View BVdb publication page

---

Biliary Atresia: Clinical Phenotypes and Aetiological Heterogeneity.

Journal Of Clinical Medicine

Davenport, Mark M; Muntean, Ancuta A; Hadzic, Nedim N

Publication Date: 2021-12-01

Variant appearance in text: ABCB4: A934T

PubMed Link: 34884377

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Biliary Atresia: Clinical Phenotypes and Aetiological Heterogeneity.

Journal Of Clinical Medicine

Davenport, Mark M; Muntean, Ancuta A; Hadzic, Nedim N

Publication Date: 2021-12-01

Variant appearance in text: ABCB4: A934T

PubMed Link: 34884377

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs61730509

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.pdf

View BVdb publication page

---

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Sallevelt, Suzanne C E H SCEH; Stegmann, Alexander P A APA; de Koning, Bart B; Velter, Crool C; Steyls, Anja A; van Esch, Melanie M; Lakeman, Phillis P; Yntema, Helger H; Esteki, Masoud Zamani MZ; de Die-Smulders, Christine E M CEM; Gilissen, Christian C; van den Wijngaard, Arthur A; Brunner, Han G HG; Paulussen, Aimée D C ADC

Publication Date: 2021-06

Variant appearance in text: ABCB4: 2800G>A; Ala934Thr

PubMed Link: 33742171

Variant Present in the following documents:

• Main text
• 41436_2021_1116_MOESM3_ESM.xlsx, sheet 1
• 41436_2021_Article_1116.pdf
• 41436_2021_1116_MOESM2_ESM.pdf

View BVdb publication page

---

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

Jhep Reports : Innovation In Hepatology

Dong, Catherine C; Condat, Bertrand B; Picon-Coste, Magalie M; Chrétien, Yves Y; Potier, Pascal P; Noblinski, Béatrice B; Arrivé, Lionel L; Hauuy, Marie-Pierre MP; Barbu, Véronique V; Maftouh, Anware A; Gaouar, Farid F; Ben Belkacem, Karima K; Housset, Chantal C; Poupon, Raoul R; Zanditenas, David D; Chazouillères, Olivier O; Corpechot, Christophe C

Publication Date: 2021-04

Variant appearance in text: ABCB4: Ala934Thr

PubMed Link: 33554096

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Clinical utility of genomic analysis in adults with idiopathic liver disease.

Journal Of Hepatology

Hakim, Aaron A; Zhang, Xuchen X; DeLisle, Angela A; Oral, Elif A EA; Dykas, Daniel D; Drzewiecki, Kaela K; Assis, David N DN; Silveira, Marina M; Batisti, Jennifer J; Jain, Dhanpat D; Bale, Allen A; Mistry, Pramod K PK; Vilarinho, Silvia S

Publication Date: 2019-06

Variant appearance in text: ABCB4: 2800G>A

PubMed Link: 31000363

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs61730509

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Hepatic MDR3 expression impacts lipid homeostasis and susceptibility to inflammatory bile duct obstruction in neonates.

Pediatric Research

Carey, Alexandra N AN; Zhang, Wujuan W; Setchell, Kenneth D R KDR; Simmons, Julia R JR; Shi, Tiffany T; Lages, Celine S CS; Mullen, Mary M; Carroll, Kaitlin K; Karns, Rebekah R; Bessho, Kazuhiko K; Sheridan, Rachel R; Zhao, Xueheng X; Weber, Susanne N SN; Miethke, Alexander G AG

Publication Date: 2017-07

Variant appearance in text: ABCB4: A934T

PubMed Link: 28355206

Variant Present in the following documents:

• Main text
• nihms860597.pdf

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: ABCB4: A934T

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

---

Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: ABCB4: A934T; rs61730509

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

---

Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones.

Plos One

Gordo-Gilart, Raquel R; Andueza, Sara S; Hierro, Loreto L; Jara, Paloma P; Alvarez, Luis L

Publication Date: 2016

Variant appearance in text: ABCB4: A934T

PubMed Link: 26900700

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GBD1: A934T; rs61730509

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Repository of mutations from Oman: The entry point to a national mutation database.

F1000Research

Rajab, Anna A; Hamza, Nishath N; Al Harasi, Salma S; Al Lawati, Fatma F; Gibbons, Una U; Al Alawi, Intesar I; Kobus, Karoline K; Hassan, Suha S; Mahir, Ghariba G; Al Salmi, Qasim Q; Mons, Barend B; Robinson, Peter P

Publication Date: 2015

Variant appearance in text: ABCB4: 2800G>A

PubMed Link: 26594346

Variant Present in the following documents:

• Main text
• f1000research-4-7471.pdf

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCB4: A934T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Genetic contributors and modifiers of biliary atresia.

Digestive Diseases (Basel, Switzerland)

Mezina, Anya A; Karpen, Saul J SJ

Publication Date: 2015

Variant appearance in text: ABCB4: A934T

PubMed Link: 26045276

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.

Plos Genetics

Wu, Jiaxin J; Li, Yanda Y; Jiang, Rui R

Publication Date: 2014-03

Variant appearance in text: ABCB4: Ala934Thr

PubMed Link: 24651380

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.

Orphanet Journal Of Rare Diseases

Rosmorduc, Olivier O; Poupon, Raoul R

Publication Date: 2007-06-11

Variant appearance in text: ABCB4: Ala934Thr

PubMed Link: 17562004

Variant Present in the following documents:

• Main text
• 1750-1172-2-29.pdf

View BVdb publication page

---