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Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

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Title: Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Authors: Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Svingou M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Mitrakos A; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Kosma K; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Tsoutsou I; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Makrythanasis P; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Department of Genetic Medicine and Development, Medical School, University of Geneva, Geneva, Switzerland.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece., Theodorou V; Pediatric Neurology Department, St. Sophia's Children's Hospital, Athens, Greece., Katsalouli M; Pediatric Neurology Department, St. Sophia's Children's Hospital, Athens, Greece., Vorgia P; Agrifood and Life Sciences Institute, Hellenic Mediterranean University, Heraklion, Crete, Greece., Niotakis G; Pediatric Neurology Department, Venizelion Hospital, Heraklion, Greece., Vartzelis G; Second Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, P. & A. Kyriakou Children's Hospital, Athens, Greece., Dinopoulos A; Forth Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, General Hospital of Athens Attikon, Athens, Greece., Evangeliou A; Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece., Mouskou S; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece., Korona A; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece., Mastroyianni S; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece., Papavasiliou A; Department of Pediatric Neurology, Iaso Children's Hospital, Marousi, Greece., Tzetis M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Pons R; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
Source: Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 Jan; Vol. 23 (1), pp. 85-103. Date of Electronic Publication: 2023 Feb 14.
Publication Type: Journal Article
Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101120777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8352 (Electronic) Linking ISSN: 14737159 NLM ISO Abbreviation: Expert Rev Mol Diagn Subsets: MEDLINE
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  Data: Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
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  Data: <searchLink fieldCode="AU" term="%22Veltra+D%22">Veltra D</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tilemis+FN%22">Tilemis FN</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Marinakis+NM%22">Marinakis NM</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Svingou+M%22">Svingou M</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Mitrakos+A%22">Mitrakos A</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kosma+K%22">Kosma K</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tsoutsou+I%22">Tsoutsou I</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Makrythanasis+P%22">Makrythanasis P</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Department of Genetic Medicine and Development, Medical School, University of Geneva, Geneva, Switzerland.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Theodorou+V%22">Theodorou V</searchLink>; Pediatric Neurology Department, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Katsalouli+M%22">Katsalouli M</searchLink>; Pediatric Neurology Department, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Vorgia+P%22">Vorgia P</searchLink>; Agrifood and Life Sciences Institute, Hellenic Mediterranean University, Heraklion, Crete, Greece.<br /><searchLink fieldCode="AU" term="%22Niotakis+G%22">Niotakis G</searchLink>; Pediatric Neurology Department, Venizelion Hospital, Heraklion, Greece.<br /><searchLink fieldCode="AU" term="%22Vartzelis+G%22">Vartzelis G</searchLink>; Second Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, P. & A. Kyriakou Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Dinopoulos+A%22">Dinopoulos A</searchLink>; Forth Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, General Hospital of Athens Attikon, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Evangeliou+A%22">Evangeliou A</searchLink>; Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Mouskou+S%22">Mouskou S</searchLink>; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Korona+A%22">Korona A</searchLink>; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Mastroyianni+S%22">Mastroyianni S</searchLink>; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Papavasiliou+A%22">Papavasiliou A</searchLink>; Department of Pediatric Neurology, Iaso Children's Hospital, Marousi, Greece.<br /><searchLink fieldCode="AU" term="%22Tzetis+M%22">Tzetis M</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Pons+R%22">Pons R</searchLink>; First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Traeger-Synodinos+J%22">Traeger-Synodinos J</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Sofocleous+C%22">Sofocleous C</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
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  Data: <searchLink fieldCode="JN" term="%22101120777%22">Expert review of molecular diagnostics</searchLink> [Expert Rev Mol Diagn] 2023 Jan; Vol. 23 (1), pp. 85-103. <i>Date of Electronic Publication: </i>2023 Feb 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Taylor+%26+Francis%22">Taylor & Francis </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101120777 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-8352 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214737159%22">14737159 </searchLink><i>NLM ISO Abbreviation: </i>Expert Rev Mol Diagn <i>Subsets: </i>MEDLINE
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