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Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

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Title: Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Authors: Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany., Wagner M; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Weigand H; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany., McConkie-Rossell A; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA., Keren B; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Mignot C; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Gauthier J; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, QC, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, QC, Canada., Soucy JF; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, QC, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, QC, Canada., Michaud JL; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, QC, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, QC, Canada., Dumas M; Division of Genetic, Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME, USA., Smith R; Division of Genetic, Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME, USA., Löbel U; Department of Diagnostic and Interventional Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Canada., Bain JM; Division of Child Neurology, Department of Neurology, Columbia University Irving Medical Center, New York, USA., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. d.lessel@uke.de.
Source: Human genetics [Hum Genet] 2022 Feb; Vol. 141 (2), pp. 257-272. Date of Electronic Publication: 2021 Dec 14.
Publication Type: Case Reports; Journal Article; Twin Study
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
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  Data: <searchLink fieldCode="AU" term="%22Kreienkamp+HJ%22">Kreienkamp HJ</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Institute of Human Genetics, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Weigand+H%22">Weigand H</searchLink>; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22McConkie-Rossell+A%22">McConkie-Rossell A</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA.<br /><searchLink fieldCode="AU" term="%22McDonald+M%22">McDonald M</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Gauthier+J%22">Gauthier J</searchLink>; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, QC, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Soucy+JF%22">Soucy JF</searchLink>; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, QC, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Michaud+JL%22">Michaud JL</searchLink>; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, QC, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Dumas+M%22">Dumas M</searchLink>; Division of Genetic, Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME, USA.<br /><searchLink fieldCode="AU" term="%22Smith+R%22">Smith R</searchLink>; Division of Genetic, Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME, USA.<br /><searchLink fieldCode="AU" term="%22Löbel+U%22">Löbel U</searchLink>; Department of Diagnostic and Interventional Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hempel+M%22">Hempel M</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kubisch+C%22">Kubisch C</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Denecke+J%22">Denecke J</searchLink>; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Campeau+PM%22">Campeau PM</searchLink>; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Bain+JM%22">Bain JM</searchLink>; Division of Child Neurology, Department of Neurology, Columbia University Irving Medical Center, New York, USA.<br /><searchLink fieldCode="AU" term="%22Lessel+D%22">Lessel D</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. d.lessel@uke.de.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2022 Feb; Vol. 141 (2), pp. 257-272. <i>Date of Electronic Publication: </i>2021 Dec 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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