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

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Title: Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.
Authors: Buhl N; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Pfister ED; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Oliveira DV; Department of Cell Biology, Faculty of Science, Charles University, Viničná 7, Prague, 12800, Czech Republic.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic., Turetti F; Department of Cell Biology, Faculty of Science, Charles University, Viničná 7, Prague, 12800, Czech Republic., Lurz E; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Baumann U; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Di Donato N; Department of Human Genetics, Hannover Medical School, Carl- Neuberg-Str.1, 30625, Hannover, Germany., Illig T; Hannover Unified Bank, Hannover Medical School, Hannover, Germany., Skawran B; Department of Human Genetics, Hannover Medical School, Carl- Neuberg-Str.1, 30625, Hannover, Germany., Andersson ER; Department of Cell and Molecular Biology, Karolinska Institute, Stockholm, Sweden., Mašek J; Department of Cell Biology, Faculty of Science, Charles University, Viničná 7, Prague, 12800, Czech Republic. jan.masek@natur.cuni.cz.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic. jan.masek@natur.cuni.cz., Stalke A; Department of Human Genetics, Hannover Medical School, Carl- Neuberg-Str.1, 30625, Hannover, Germany. Stalke.Amelie@mh-hannover.de.
Source: Human genetics [Hum Genet] 2026 Apr 18; Vol. 145 (1). Date of Electronic Publication: 2026 Apr 18.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1432-1203
DOI:10.1007/s00439-026-02832-7