Amelie Stalke

Carl Neuberg Str. 1
Hannover, NI 30625, Germany

Last Updated: 09/26/2026

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Found 25 publications

Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure.

Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure.

Journal: Frontiers in genetics

Published: February 02, 2026

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Journal: American journal of human genetics

Published: December 18, 2025

Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.

Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.

Journal: Human genetics

Published: August 19, 2025

In vivo base editing alleviates hepatic iron accumulation and fibrosis in models of HFE-related hereditary hemochromatosis.

In vivo base editing alleviates hepatic iron accumulation and fibrosis in models of HFE-related hereditary hemochromatosis.

Journal: Journal of hepatology

Published: July 15, 2025

A farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis.

A farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis.

Journal: The Journal of biological chemistry

Published: April 28, 2025

iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis.

iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis.

Journal: Hepatology communications

Published: April 25, 2025

Mild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study.

Mild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study.

Journal: Children (Basel, Switzerland)

Published: July 18, 2023

Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.

Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.

Journal: Clinical genetics

Published: January 19, 2023

Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.

Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: November 10, 2022

Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.

Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.

Journal: Hepatology communications

Published: August 09, 2022

Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency.

Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency.

Journal: JHEP reports : innovation in hepatology

Published: June 22, 2022

Vasor: Accurate prediction of variant effects for amino acid substitutions in multidrug resistance protein 3.

Vasor: Accurate prediction of variant effects for amino acid substitutions in multidrug resistance protein 3.

Journal: Hepatology communications

Published: May 15, 2022

Showing 1-12 of 25

Last Updated: 09/26/2026