Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrier.

Saved in:
Bibliographic Details
Title: Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrier.
Authors: Nakamura K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan., Okazaki A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan. Electronic address: a-okazaki@juntendo.ac.jp., Motooka D; Department of Infection Metagenomics, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan., Matsumoto N; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan., Hasegawa Y; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Fukuda S; Department of Neonatal Medicine, Osaka Women's and Children's Hospital, Osaka, Japan., Yabe M; Department of Pediatrics, Nagano Red Cross Hospital, Nagano, Japan; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan., Sugiura A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan., Yatsuka Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan., Fushimi T; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Onuki T; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Aida Y; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Ohtake A; Department of Pediatrics and Clinical Genomics, Saitama Medical University, Saitama, Japan., Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Okazaki Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan. Electronic address: ya-okazaki@juntendo.ac.jp.
Source: HGG advances [HGG Adv] 2026 Jun 09, pp. 100632. Date of Electronic Publication: 2026 Jun 09.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2666-2477
DOI:10.1016/j.xhgg.2026.100632