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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

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Title: Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Authors: Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Oneda B; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Gogoll L; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Azzarello-Burri S; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Sheth F; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India., Datar C; Sahyadri Medical Genetics and Tissue Engineering Facility, Kothrud, Pune and Bharati Hospital and Research Center Dhankawadi, Pune, India., Verma IC; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India., Puri RD; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India., Zollino M; Unità Operativa Complessa di Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, and Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Niedrist D; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Papik M; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Figueiro-Silva J; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Masood R; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Kraemer D; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Lincoln S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Rodan L; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Passemard S; Service de Neuropédiatrie, Hôpital Universitaire Robert Debré, APHP, Paris, France.; Département de Génétique, Hôpital Universitaire Robert Debré, APHP, Paris, France., Drunat S; Département de Génétique, Hôpital Universitaire Robert Debré, APHP, Paris, France., Verloes A; Département de Génétique, Hôpital Universitaire Robert Debré, APHP, Paris, France., Horn AHC; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Sticht H; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Steinfeld R; Division of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland., Plecko B; Division of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria., Latal B; Child Development Center, University Children's Hospital Zurich, Zurich, Switzerland., Jenni O; Child Development Center, University Children's Hospital Zurich, Zurich, Switzerland., Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.
Corporate Authors: Undiagnosed Diseases Network (UDN)
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2043-2058. Date of Electronic Publication: 2019 Mar 07.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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  Data: Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
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  Data: <searchLink fieldCode="AU" term="%22Boonsawat+P%22">Boonsawat P</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Joset+P%22">Joset P</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Oneda+B%22">Oneda B</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Gogoll+L%22">Gogoll L</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Azzarello-Burri+S%22">Azzarello-Burri S</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Sahyadri Medical Genetics and Tissue Engineering Facility, Kothrud, Pune and Bharati Hospital and Research Center Dhankawadi, Pune, India.<br /><searchLink fieldCode="AU" term="%22Verma+IC%22">Verma IC</searchLink>; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Puri+RD%22">Puri RD</searchLink>; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Zollino+M%22">Zollino M</searchLink>; Unità Operativa Complessa di Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, and Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bachmann-Gagescu+R%22">Bachmann-Gagescu R</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Niedrist+D%22">Niedrist D</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Papik+M%22">Papik M</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Figueiro-Silva+J%22">Figueiro-Silva J</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Masood+R%22">Masood R</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Zweier+M%22">Zweier M</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kraemer+D%22">Kraemer D</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Lincoln+S%22">Lincoln S</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Rodan+L%22">Rodan L</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Passemard+S%22">Passemard S</searchLink>; Service de Neuropédiatrie, Hôpital Universitaire Robert Debré, APHP, Paris, France.; Département de Génétique, Hôpital Universitaire Robert Debré, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Drunat+S%22">Drunat S</searchLink>; Département de Génétique, Hôpital Universitaire Robert Debré, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Verloes+A%22">Verloes A</searchLink>; Département de Génétique, Hôpital Universitaire Robert Debré, APHP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Horn+AHC%22">Horn AHC</searchLink>; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Sticht+H%22">Sticht H</searchLink>; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Steinfeld+R%22">Steinfeld R</searchLink>; Division of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Plecko+B%22">Plecko B</searchLink>; Division of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.<br /><searchLink fieldCode="AU" term="%22Latal+B%22">Latal B</searchLink>; Child Development Center, University Children's Hospital Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Jenni+O%22">Jenni O</searchLink>; Child Development Center, University Children's Hospital Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Asadollahi+R%22">Asadollahi R</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.
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