Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?

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Title: Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?
Authors: Grossi A; Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy., Rusmini M; Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Clinical Bioinformatics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Cusano R; CRS4, Science and Technology Park Polaris, Pula, Italy., Massidda M; CRS4, Science and Technology Park Polaris, Pula, Italy., Santamaria G; Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy., Napoli F; Pediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genova, Italy., Angelelli A; D.I.N.O.G.M.I, Università degli Studi di Genova, Genova, Italy., Fava D; D.I.N.O.G.M.I, Università degli Studi di Genova, Genova, Italy., Uva P; Clinical Bioinformatics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Ceccherini I; Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy., Maghnie M; Pediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genova, Italy.; D.I.N.O.G.M.I, Università degli Studi di Genova, Genova, Italy.
Source: Frontiers in genetics [Front Genet] 2023 Aug 07; Vol. 14, pp. 1031074. Date of Electronic Publication: 2023 Aug 07 (Print Publication: 2023).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
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  Data: Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?
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  Data: <searchLink fieldCode="AU" term="%22Grossi+A%22">Grossi A</searchLink>; Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Rusmini+M%22">Rusmini M</searchLink>; Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Clinical Bioinformatics, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Cusano+R%22">Cusano R</searchLink>; CRS4, Science and Technology Park Polaris, Pula, Italy.<br /><searchLink fieldCode="AU" term="%22Massidda+M%22">Massidda M</searchLink>; CRS4, Science and Technology Park Polaris, Pula, Italy.<br /><searchLink fieldCode="AU" term="%22Santamaria+G%22">Santamaria G</searchLink>; Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Napoli+F%22">Napoli F</searchLink>; Pediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Angelelli+A%22">Angelelli A</searchLink>; D.I.N.O.G.M.I, Università degli Studi di Genova, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Fava+D%22">Fava D</searchLink>; D.I.N.O.G.M.I, Università degli Studi di Genova, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Uva+P%22">Uva P</searchLink>; Clinical Bioinformatics, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Ceccherini+I%22">Ceccherini I</searchLink>; Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Maghnie+M%22">Maghnie M</searchLink>; Pediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genova, Italy.; D.I.N.O.G.M.I, Università degli Studi di Genova, Genova, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2023 Aug 07; Vol. 14, pp. 1031074. <i>Date of Electronic Publication: </i>2023 Aug 07 (<i>Print Publication: </i>2023).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2023 Aug 07
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