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Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.

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Bibliographic Details
Title: Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.
Authors: Rashidi K; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Modi BP; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Richmond PA; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Mangino M; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Byres L; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., McDonald C; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Dalmann J; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Samra S; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Bel KLD; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Lehman A; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Zambonin JL; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Turvey SE; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1719-1724. Date of Electronic Publication: 2026 Mar 13.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.70124