Amelie Stalke (A Stalke)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 7

Top Topics

Binding Protein

Intellectual Disability

Top Venues

Clinical genetics

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

European journal of human genetics : EJHG

Annals of human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Aline Azabdaftari, Henrike L Sczakiel, Magdalena Danyel, Benno Kohlmaier, Christoph J Mache, Amelie Stalke, Eva-Doreen Pfister, Julia Thumfart, Stephan Henning, A S Knisely, Philip Bufler
Biallelic known and novel DCDC2 variants in cholestatic liver disease: phenotype-genotype observations in four children. Liver international : official journal of the International Association for the Study of the Liver (2023)
Amelie Stalke, Annika Behrendt, Finja Hennig, Holger Gohlke, Nicole Buhl, Thea Reinkens, Ulrich Baumann, Brigitte Schlegelberger, Thomas Illig, Eva-Doreen Pfister, Britta Skawran
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease. Clinical genetics (2023)
Eva-Doreen Pfister, Carola Dröge, Roman Liebe, Amelie Stalke, Nicole Buhl, Antje Ballauff, Tobias Cantz, Eva Bueltmann, Jan Stindt, Tom Luedde, Ulrich Baumann, Verena Keitel
Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review. Liver international : official journal of the International Association for the Study of the Liver 42 (5) (2022)
Nicole Buhl, Eva-Doreen Pfister, Jens Bohne, Ulrich Baumann, Björn Hartleben, Brigitte Schlegelberger, Thomas Illig, Britta Skawran, Amelie Stalke
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome. Clinical genetics 102 (3) (2022)
Amelie Stalke, Eva-Doreen Pfister, Ulrich Baumann, Thomas Illig, Eva Reischl, Maria Sandbothe, Beate Vajen, Nicole Huge, Brigitte Schlegelberger, Nils von Neuhoff, Britta Skawran
MTF1 binds to metal-responsive element e within the ATP7B promoter and is a strong candidate in regulating the ATP7B expression. Annals of human genetics 84 (2) (2019)
Amelie Stalke, Eva-Doreen Pfister, Ulrich Baumann, Marlies Eilers, Vera Schäffer, Thomas Illig, Bernd Auber, Brigitte Schlegelberger, Renate Brackmann, Holger Prokisch, Simon Krooss, Jens Bohne, Britta Skawran
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export. European journal of human genetics : EJHG 27 (6) (2019)
Amelie Stalke, B Skawran, B Auber, T Illig, B Schlegelberger, N Junge, I Goldschmidt, C Leiskau, N von Neuhoff, U Baumann, E-D Pfister
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing. Clinical genetics 93 (3) (2017)