Associated Papers
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
Wallander K et al.
Hereditary Cancer in Clinical Practice, 2021
Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.
Aamann L et al.
Scandinavian Journal of Gastroenterology, 2018
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