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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

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Title: Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Authors: Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy., Billington CJ; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA., Barkovich AJ; Departments of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA., Dinkel P; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Heide M; Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany.; German Primate Center, Leibniz Institute for Primate Research, 37077 Goettingen, Germany., Gershon ES; Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA., Gertler TS; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Hopkin RJ; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Division of Human Genetics, Cincinnati, OH 45229, USA., Jacob S; Department of Psychiatry, University of Minnesota, Minneapolis, MN 55454, USA., Keedy SK; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA., Kooshavar D; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Lockhart PJ; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Lohmann DR; Institut fur Humangenetik, Universitatsklinikum Essen, 45147 Essen, Germany., Mahmoud IG; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt., Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy., Schrock E; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Severi G; Medical Genetics Unit, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA., Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney 2145, Australia., Willis MJH; Uniformed Services University School of Medicine and Naval Medical Center, Department of Pediatrics, San Diego, CA 92134, USA., Zaki MS; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt.; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo Governorate 12622, Egypt., Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA.
Source: Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 3274-3287.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
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  Data: <searchLink fieldCode="AU" term="%22Di+Donato+N%22">Di Donato N</searchLink>; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Guerrini+R%22">Guerrini R</searchLink>; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Billington+CJ%22">Billington CJ</searchLink>; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA.<br /><searchLink fieldCode="AU" term="%22Barkovich+AJ%22">Barkovich AJ</searchLink>; Departments of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA.<br /><searchLink fieldCode="AU" term="%22Dinkel+P%22">Dinkel P</searchLink>; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Freri+E%22">Freri E</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Heide+M%22">Heide M</searchLink>; Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany.; German Primate Center, Leibniz Institute for Primate Research, 37077 Goettingen, Germany.<br /><searchLink fieldCode="AU" term="%22Gershon+ES%22">Gershon ES</searchLink>; Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA.<br /><searchLink fieldCode="AU" term="%22Gertler+TS%22">Gertler TS</searchLink>; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Hopkin+RJ%22">Hopkin RJ</searchLink>; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Division of Human Genetics, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Jacob+S%22">Jacob S</searchLink>; Department of Psychiatry, University of Minnesota, Minneapolis, MN 55454, USA.<br /><searchLink fieldCode="AU" term="%22Keedy+SK%22">Keedy SK</searchLink>; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA.<br /><searchLink fieldCode="AU" term="%22Kooshavar+D%22">Kooshavar D</searchLink>; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Lockhart+PJ%22">Lockhart PJ</searchLink>; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Lohmann+DR%22">Lohmann DR</searchLink>; Institut fur Humangenetik, Universitatsklinikum Essen, 45147 Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Mahmoud+IG%22">Mahmoud IG</searchLink>; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Parrini+E%22">Parrini E</searchLink>; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Schrock+E%22">Schrock E</searchLink>; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Severi+G%22">Severi G</searchLink>; Medical Genetics Unit, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Timms+AE%22">Timms AE</searchLink>; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.<br /><searchLink fieldCode="AU" term="%22Webster+RI%22">Webster RI</searchLink>; T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney 2145, Australia.<br /><searchLink fieldCode="AU" term="%22Willis+MJH%22">Willis MJH</searchLink>; Uniformed Services University School of Medicine and Naval Medical Center, Department of Pediatrics, San Diego, CA 92134, USA.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt.; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo Governorate 12622, Egypt.<br /><searchLink fieldCode="AU" term="%22Gleeson+JG%22">Gleeson JG</searchLink>; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.<br /><searchLink fieldCode="AU" term="%22Leventer+RJ%22">Leventer RJ</searchLink>; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA.
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  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2022 Sep 14; Vol. 145 (9), pp. 3274-3287.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
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