1 |
Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
62
5
|
Yang Y...Wang JS
|
34543749 |
2021 |
2 |
ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.
62
5
|
Al-Hussaini A...Asery A
|
33915153 |
2021 |
3 |
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
62
5
|
Hertel PM...Childhood Liver Disease Research Network (ChiLDReN)
|
34016879 |
2021 |
4 |
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
62
5
|
Zhang W...Liu L
|
33215027 |
2020 |
5 |
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
62
5
|
Li LT...Wang JS
|
32808743 |
2020 |
6 |
Genotype correlates with the natural history of severe bile salt export pump deficiency.
62
5
|
van Wessel DBE...NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium
|
32087350 |
2020 |
7 |
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall.
62
5
|
Sticova E...Jirsa M
|
31728073 |
2020 |
8 |
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.
62
5
|
Saleem K...Sun W
|
32626542 |
2020 |
9 |
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
62
5
|
Sharma A...Aggarwal R
|
29973134 |
2018 |
10 |
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
62
5
|
Schatz SB...Baumann U
|
29761167 |
2018 |
11 |
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
62
5
|
Delaunay JL...Maurice M
|
26474921 |
2016 |
12 |
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
62
5
|
Togawa T...Saitoh S
|
26858187 |
2016 |
13 |
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
62
5
|
Degiorgio D...Battezzati PM
|
26324191 |
2016 |
14 |
Reversal of advanced fibrosis after long-term ursodeoxycholic acid therapy in a patient with residual expression of MDR3.
62
5
|
Frider B...Mathet V
|
26256905 |
2015 |
15 |
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
62
5
|
Gordo-Gilart R...Alvarez L
|
24594635 |
2015 |
16 |
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.
62
5
|
Hasegawa Y...Kusuhara H
|
25022842 |
2014 |
17 |
The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated cholangiopathy in adults.
62
5
|
Poupon R...Rosmorduc O
|
20537830 |
2010 |
18 |
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
62
5
|
Davit-Spraul A...Jacquemin E
|
20422496 |
2010 |
19 |
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
62
5
|
Davit-Spraul A...Jacquemin E
|
20232290 |
2010 |
20 |
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.
62
5
|
Byrne JA...Thompson RJ
|
19101985 |
2009 |
21 |
Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.
62
5
|
Chen HL...Chang MH
|
18692205 |
2008 |
22 |
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
62
5
|
Strautnieks SS...Thompson RJ
|
18395098 |
2008 |
23 |
Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.
62
5
|
Lam P...Boyer JL
|
17855769 |
2007 |
24 |
Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2.
62
5
|
Walkowiak J...Socha J
|
16641580 |
2006 |
25 |
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
62
5
|
Klomp LW...Bull LN
|
15239083 |
2004 |
26 |
Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity.
62
5
|
Chen F...Shneider BL
|
14988830 |
2004 |
27 |
Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis.
62
5
|
Goto K...Togari H
|
12717091 |
2003 |
28 |
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
62
5
|
Strautnieks SS...Thompson RJ
|
9806540 |
1998 |
29 |
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans.
5
|
Belbin GM...Kenny EE
|
34678161 |
2021 |
30 |
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
5
|
Bertoli-Avella AM...Bauer P
|
32860008 |
2021 |
31 |
The role of genetic mutations in intrahepatic cholestasis of pregnancy.
5
|
Aydin GA...Gorukmez O
|
32917322 |
2020 |
32 |
Whole-genome sequencing of patients with rare diseases in a national health system.
5
|
Turro E...Ouwehand WH
|
32581362 |
2020 |
33 |
Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.
5
|
Fakhro KA...Crystal RG
|
31625567 |
2019 |
34 |
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
5
|
Huynh MT...Barbu V
|
31538484 |
2019 |
35 |
A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.
5
|
Khabou B...Fakhfakh F
|
31181191 |
2019 |
36 |
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.
5
|
Liu T...Wang JS
|
29412511 |
2018 |
37 |
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
5
|
Stalke A...Pfister ED
|
28776642 |
2018 |
38 |
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
5
|
Droge C...Keitel V
|
28733223 |
2017 |
39 |
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
5
|
Dixon PH...Williamson C
|
28924228 |
2017 |
40 |
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
5
|
Khabou B...Maurice M
|
28587926 |
2017 |
41 |
Genetic profiling of children with advanced cholestatic liver disease.
5
|
Shagrani M...Alkuraya FS
|
28039895 |
2017 |
42 |
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
5
|
Qiu YL...Wang JS
|
28027573 |
2017 |
43 |
Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis.
5
|
Goldschmidt ML...Bezerra JA
|
26126923 |
2016 |
44 |
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
5
|
Wang NL...Wang JS
|
27050426 |
2016 |
45 |
Hypothyroidism Associated with ATP8B1 Deficiency.
5
|
Li L...Wang J
|
26382629 |
2015 |
46 |
Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.
5
|
Wendum D...Poupon R
|
22331132 |
2012 |
47 |
Analysis of gene mutations in children with cholestasis of undefined etiology.
5
|
Matte U...Bezerra JA
|
20683201 |
2010 |
48 |
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.
5
|
Tomaiuolo R...Colombo C
|
19467940 |
2009 |
49 |
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.
5
|
Lam CW...Tong SF
|
16290310 |
2006 |
50 |
Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin.
5
|
Egawa H...Tanaka K
|
12149765 |
2002 |