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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

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Title: MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Authors: Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Lin AE; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Vegas N; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Cho MT; GeneDx, Gaithersburg, MD, USA., Viot G; Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Dimartino C; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Weisfeld-Adams JD; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Li C; McMaster University Medical Center, Hamilton, Ontario, Canada., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Troyer C; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Radiology, University of Washington, Seattle, WA, USA., Leung G; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Barone Pritchard A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Yang S; GeneDx, Gaithersburg, MD, USA., Bend EG; Greenwood Genetic Center, Greenwood, SC, USA.; PreventionGenetics, Marshfield, WI, USA., Filippini F; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Roadhouse C; McMaster University Medical Center, Hamilton, Ontario, Canada., Lebrun N; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France., Mehaffey MG; Department of Pediatrics, University of Washington, Seattle, WA, USA., Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Apple B; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Puk O; Praxis für Humangenetik Tübingen, Tübingen, Germany., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Henderson LB; GeneDx, Gaithersburg, MD, USA., McGowan R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Pei S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Zahir FR; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Yu M; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Seman A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Steeves M; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Luettgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Francisco E; eviCore healthcare, Bluffton, SC, USA., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Amlie-Wolf L; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Kaindl AM; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Wilson WG; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel., Lev-El N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Vissers LELM; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands., Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Reid RR; Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA., Devriendt K; Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Powis Z; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Bienvenu T; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia., Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Waggoner D; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Gripp KW; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK., Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Cormier-Daire V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Viskochil D; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA., Hoffman TL; Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA., Amiel J; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Corporate Authors: University of Washington Center for Mendelian Genomics
Source: Brain : a journal of neurology [Brain] 2020 Jan 01; Vol. 143 (1), pp. 55-68.
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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Items – Name: Title
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  Data: MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Mak+CCY%22">Mak CCY</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.<br /><searchLink fieldCode="AU" term="%22Doherty+D%22">Doherty D</searchLink>; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Lin+AE%22">Lin AE</searchLink>; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Vegas+N%22">Vegas N</searchLink>; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cho+MT%22">Cho MT</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Viot+G%22">Viot G</searchLink>; Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Dimartino+C%22">Dimartino C</searchLink>; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Weisfeld-Adams+JD%22">Weisfeld-Adams JD</searchLink>; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Lessel+D%22">Lessel D</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Joss+S%22">Joss S</searchLink>; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Li+C%22">Li C</searchLink>; McMaster University Medical Center, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Gonzaga-Jauregui+C%22">Gonzaga-Jauregui C</searchLink>; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.<br /><searchLink fieldCode="AU" term="%22Zarate+YA%22">Zarate YA</searchLink>; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22Ehmke+N%22">Ehmke N</searchLink>; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Horn+D%22">Horn D</searchLink>; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Troyer+C%22">Troyer C</searchLink>; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Kant+SG%22">Kant SG</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lee+Y%22">Lee Y</searchLink>; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Ishak+GE%22">Ishak GE</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Radiology, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Leung+G%22">Leung G</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.<br /><searchLink fieldCode="AU" term="%22Barone+Pritchard+A%22">Barone Pritchard A</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Yang+S%22">Yang S</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bend+EG%22">Bend EG</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.; PreventionGenetics, Marshfield, WI, USA.<br /><searchLink fieldCode="AU" term="%22Filippini+F%22">Filippini F</searchLink>; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Roadhouse+C%22">Roadhouse C</searchLink>; McMaster University Medical Center, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Lebrun+N%22">Lebrun N</searchLink>; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mehaffey+MG%22">Mehaffey MG</searchLink>; Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Martin+PM%22">Martin PM</searchLink>; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Apple+B%22">Apple B</searchLink>; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Millan+F%22">Millan F</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Puk+O%22">Puk O</searchLink>; Praxis für Humangenetik Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hoffer+MJV%22">Hoffer MJV</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Henderson+LB%22">Henderson LB</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22McGowan+R%22">McGowan R</searchLink>; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Pei+S%22">Pei S</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.<br /><searchLink fieldCode="AU" term="%22Zahir+FR%22">Zahir FR</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Yu+M%22">Yu M</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.<br /><searchLink fieldCode="AU" term="%22Gibson+WT%22">Gibson WT</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Seman+A%22">Seman A</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Steeves+M%22">Steeves M</searchLink>; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Murrell+JR%22">Murrell JR</searchLink>; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Luettgen+S%22">Luettgen S</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Francisco+E%22">Francisco E</searchLink>; eviCore healthcare, Bluffton, SC, USA.<br /><searchLink fieldCode="AU" term="%22Strom+TM%22">Strom TM</searchLink>; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Amlie-Wolf+L%22">Amlie-Wolf L</searchLink>; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.<br /><searchLink fieldCode="AU" term="%22Kaindl+AM%22">Kaindl AM</searchLink>; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Wilson+WG%22">Wilson WG</searchLink>; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Halbach+S%22">Halbach S</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Basel-Salmon+L%22">Basel-Salmon L</searchLink>; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel.<br /><searchLink fieldCode="AU" term="%22Lev-El+N%22">Lev-El N</searchLink>; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.<br /><searchLink fieldCode="AU" term="%22Denecke+J%22">Denecke J</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Vissers+LELM%22">Vissers LELM</searchLink>; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Radtke+K%22">Radtke K</searchLink>; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Chelly+J%22">Chelly J</searchLink>; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Zackai+E%22">Zackai E</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Friedman+JM%22">Friedman JM</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Bamshad+MJ%22">Bamshad MJ</searchLink>; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Nickerson+DA%22">Nickerson DA</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Reid+RR%22">Reid RR</searchLink>; Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Devriendt+K%22">Devriendt K</searchLink>; Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Chae+JH%22">Chae JH</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Stolerman+E%22">Stolerman E</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22McDougall+C%22">McDougall C</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Powis+Z%22">Powis Z</searchLink>; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bienvenu+T%22">Bienvenu T</searchLink>; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France.<br /><searchLink fieldCode="AU" term="%22Tan+TY%22">Tan TY</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Orenstein+N%22">Orenstein N</searchLink>; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Shieh+JT%22">Shieh JT</searchLink>; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Choi+M%22">Choi M</searchLink>; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Waggoner+D%22">Waggoner D</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Gripp+KW%22">Gripp KW</searchLink>; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.<br /><searchLink fieldCode="AU" term="%22Parker+MJ%22">Parker MJ</searchLink>; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK.<br /><searchLink fieldCode="AU" term="%22Stoler+J%22">Stoler J</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lyonnet+S%22">Lyonnet S</searchLink>; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Viskochil+D%22">Viskochil D</searchLink>; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Hoffman+TL%22">Hoffman TL</searchLink>; Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.<br /><searchLink fieldCode="AU" term="%22Amiel+J%22">Amiel J</searchLink>; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Chung+BHY%22">Chung BHY</searchLink>; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.<br /><searchLink fieldCode="AU" term="%22Gordon+CT%22">Gordon CT</searchLink>; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2020 Jan 01; Vol. 143 (1), pp. 55-68.
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  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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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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      – TitleFull: MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
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