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Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar, Muhammad; Ullah, Farid; Paracha, Sohail A; Adams, Darius J; Lai, Abbe; Pais, Lynn; Iwaszkiewicz, Justyna; Millan, Francisca; Sarwar, Muhammad T; Agha, Zehra; Shah, Sayyed Fahim; Qaisar, Azhar Ali; Falconnet, Emilie; Zoete, Vincent; Ranza, Emmanuelle; Makrythanasis, Periklis; Santoni, Federico A; Ahmed, Jawad; Katsanis, Nicholas; Walsh, Christopher; Davis, Erica E; Antonarakis, Stylianos E.
Affiliation
  • Ansar M; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland.
  • Ullah F; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, 38000 Faisalabad, Pakistan; Pakistan Institute of Engineering and Applied Scienc
  • Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan.
  • Adams DJ; Atlantic Health System, Goryeb Children's Hospital, Morristown, NJ 07960, USA.
  • Lai A; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Center for Life Sciences, Blackfan Circle, Boston, MA 02115, USA.
  • Pais L; Medical and Population Genetics Program, Broad Institute of MIT, Cambridge, MA 02142, USA; Center for Mendelian Genomics, Harvard University, Cambridge, MA 02142, USA.
  • Iwaszkiewicz J; Swiss Institute of Bioinformatics, Molecular Modeling Group, Batiment Genopode, Unil Sorge, 1015 Lausanne, Switzerland.
  • Millan F; GeneDx, Gaithersburg, MD 20877, USA.
  • Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan.
  • Agha Z; Department of Biosciences, COMSATS University, 45500 Islamabad, Pakistan.
  • Shah SF; Department of Medicine, KMU Institute of Medical Sciences, 26000 Kohat, Pakistan.
  • Qaisar AA; Radiology Department, Lady Reading Hospital, 25000 Peshawar, Pakistan.
  • Falconnet E; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland.
  • Zoete V; Swiss Institute of Bioinformatics, Molecular Modeling Group, Batiment Genopode, Unil Sorge, 1015 Lausanne, Switzerland; Department of Fundamental Oncology, Lausanne University, Ludwig Institute for Cancer Research, Route de la Corniche 9A, 1066 Epalinges, Switzerland.
  • Ranza E; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland.
  • Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Biomedical Research Foundation of the Academy of Athens, 115 27 Athens, Greece.
  • Santoni FA; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Department of Endocrinology Diabetes and Metabolism, University Hospital of Lausanne, 1011 Lausanne, Switzerland.
  • Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan.
  • Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Walsh C; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Center for Life Sciences, Blackfan Circle, Boston, MA 02115, USA; Medical and Population
  • Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: erica.davis@duke.edu.
  • Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address: stylianos.antonaraki
Am J Hum Genet ; 104(6): 1073-1087, 2019 06 06.
Article in En | MEDLINE | ID: mdl-31079899
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Zebrafish / Intracranial Arteriovenous Malformations / Dyneins / Craniofacial Abnormalities / Intellectual Disability / Microcephaly / Mutation Type of study: Prognostic_studies Limits: Adult / Animals / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Hum Genet Year: 2019 Type: Article Affiliation country: Switzerland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Zebrafish / Intracranial Arteriovenous Malformations / Dyneins / Craniofacial Abnormalities / Intellectual Disability / Microcephaly / Mutation Type of study: Prognostic_studies Limits: Adult / Animals / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Hum Genet Year: 2019 Type: Article Affiliation country: Switzerland