Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Excluded
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.
Wu J et al.
Plos Genetics, 2014
Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.
Suo SB et al.
Journal of Proteome Research, 2013
23298314 (PubMed )
Supplement: pr301007j_si_005.pdf
The molecular genetics of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Obstetric Medicine, 2008
Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.
Floreani A et al.
Alimentary Pharmacology & Therapeutics, 2006
[Decreased bone mineral density and gene polymorphism in primary biliary cirrhosis].
Lakatos PL et al.
Orvosi Hetilap, 2004
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.
Müllenbach R et al.
Journal of Medical Genetics, 2003
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