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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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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
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  Data: Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.
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  Data: <searchLink fieldCode="AU" term="%22Rashidi+K%22">Rashidi K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Modi+BP%22">Modi BP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Richmond+PA%22">Richmond PA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mangino+M%22">Mangino M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Byres+L%22">Byres L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22McDonald+C%22">McDonald C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dalmann+J%22">Dalmann J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Samra+S%22">Samra S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bel+KLD%22">Bel KLD</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lehman+A%22">Lehman A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Zambonin+JL%22">Zambonin JL</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Turvey+SE%22">Turvey SE</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1719-1724. <i>Date of Electronic Publication: </i>2026 Mar 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.70124
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        Text: English
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        StartPage: 1719
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      – TitleFull: Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.
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              Text: 2026 Jul
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