An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.

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Title: An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.
Authors: Bolte A; Department of Pediatrics, Pediatric Neurology, Kinderkrankenhaus Amsterdamer Strasse, Kliniken der Stadt Köln, Cologne, Germany., Velmans C; Institute of Human Genetics, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany., Netzer C; Institute of Human Genetics, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Faculty of Medicine, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Tuncel AT; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany., Bürger F; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany., Hiersche M; Bioscientia Bioinformatics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany., Betz C; Bioscientia Human Genetics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany., Bolz HJ; Institute of Human Genetics, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany. hanno.bolz@bioscientia.de.; Bioscientia Human Genetics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany. hanno.bolz@bioscientia.de.
Source: Human genomics [Hum Genomics] 2026 Jun 10; Vol. 20 (1). Date of Electronic Publication: 2026 Jun 10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1479-7364
DOI:10.1186/s40246-026-00995-y