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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.

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Title: cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Authors: Kuptanon C; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Morimoto M; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Nicoli ER; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Stephen J; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Yarnell DS; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Dorward H; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Owen W; Children's Hospital of The King's Daughters, Norfolk, VA, United States., Parikh S; Department of Pediatrics, School of Medicine, Emory University, Atlanta, GA, United States., Ozbek NY; Division of Pediatric Hematology and Oncology, University of Yeni Yuzyil, Gaziosmanpasa Hospital, Istanbul, Türkiye., Malbora B; Department of Pediatric Hematology/Oncology, Ankara City Hospital, The University of Health Sciences, Ankara, Türkiye., Ciccone C; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Gunay-Aygun M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Malicdan MCV; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
Source: Frontiers in genetics [Front Genet] 2023 Mar 08; Vol. 14, pp. 1072784. Date of Electronic Publication: 2023 Mar 08 (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: cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Kuptanon+C%22">Kuptanon C</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Morimoto+M%22">Morimoto M</searchLink>; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Nicoli+ER%22">Nicoli ER</searchLink>; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Stephen+J%22">Stephen J</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Yarnell+DS%22">Yarnell DS</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Dorward+H%22">Dorward H</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Owen+W%22">Owen W</searchLink>; Children's Hospital of The King's Daughters, Norfolk, VA, United States.<br /><searchLink fieldCode="AU" term="%22Parikh+S%22">Parikh S</searchLink>; Department of Pediatrics, School of Medicine, Emory University, Atlanta, GA, United States.<br /><searchLink fieldCode="AU" term="%22Ozbek+NY%22">Ozbek NY</searchLink>; Division of Pediatric Hematology and Oncology, University of Yeni Yuzyil, Gaziosmanpasa Hospital, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Malbora+B%22">Malbora B</searchLink>; Department of Pediatric Hematology/Oncology, Ankara City Hospital, The University of Health Sciences, Ankara, Türkiye.<br /><searchLink fieldCode="AU" term="%22Ciccone+C%22">Ciccone C</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Gunay-Aygun+M%22">Gunay-Aygun M</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Introne+WJ%22">Introne WJ</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.<br /><searchLink fieldCode="AU" term="%22Malicdan+MCV%22">Malicdan MCV</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2023 Mar 08; Vol. 14, pp. 1072784. <i>Date of Electronic Publication: </i>2023 Mar 08 (<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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