NAA10 polyadenylation signal variants cause syndromic microphthalmia

Jennifer J Johnston; Kathleen A Williamson; Christopher M Chou; Julie C Sapp; Morad Ansari; Heather M Chapman; David N Cooper; Tabib Dabir; Jeffrey N Dudley; Richard J Holt; Nicola K Ragge; Alejandro A Schäffer; Shurjo K Sen; Anne M Slavotinek; David R FitzPatrick; Thomas M Glaser; Fiona Stewart; Graeme CM Black; Leslie G Biesecker

doi:10.1136/jmedgenet-2018-105836

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Genotype-phenotype correlations

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NAA10 polyadenylation signal variants cause syndromic microphthalmia

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Jennifer J Johnston National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA PubMed articles Google scholar articles
Kathleen A Williamson MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK PubMed articles Google scholar articles
Christopher M Chou Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA Department of Emergency Medicine, The Permanente Medical Group (TPMG), Roseville/Sacramento, California, USA PubMed articles Google scholar articles
Julie C Sapp National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA PubMed articles Google scholar articles
Morad Ansari MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK DNA Diagnostic Laboratory, South East Scotland Regional Genetics Services, Western General Hospital, Edinburgh, UK PubMed articles Google scholar articles
Heather M Chapman Department of Cell Biology and Human Anatomy, University of California Davis, Davis, California, USA PubMed articles Google scholar articles
David N Cooper Institute of Medical Genetics, Cardiff University, Cardiff, UK PubMed articles Google scholar articles
Tabib Dabir Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK PubMed articles Google scholar articles
Jeffrey N Dudley National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA PubMed articles Google scholar articles
Richard J Holt Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK PubMed articles Google scholar articles
Nicola K Ragge Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK PubMed articles Google scholar articles
Alejandro A Schäffer Computational Biology Branch, National Center for Biotechnology Information, Bethesda, Maryland, USA Cancer Data Science Laboratory, National Cancer Institute, Bethesda, Maryland, USA PubMed articles Google scholar articles
Shurjo K Sen Leidos Biomedical Research, Inc, Basic Science Program, Cancer & Inflammation, Frederick National Laboratory for Cancer Research, Bethesda, Maryland, USA PubMed articles Google scholar articles
Anne M Slavotinek Department of Pediatrics and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA PubMed articles Google scholar articles
David R FitzPatrick MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK PubMed articles Google scholar articles
Thomas M Glaser Department of Cell Biology and Human Anatomy, University of California Davis, Davis, California, USA PubMed articles Google scholar articles
Fiona Stewart Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK PubMed articles Google scholar articles
Graeme CM Black Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK St Mary’s Hospital, Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, Manchester, UK PubMed articles Google scholar articles
Leslie G Biesecker National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA PubMed articles Google scholar articles

Correspondence to Dr Jennifer J Johnston, Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA; jjohnsto{at}mail.nih.gov

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Citation

Johnston JJ, Williamson KA, Chou CM, et al

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Journal of Medical Genetics 2019;56:444-452.

Publication history

Received October 25, 2018
Revised January 21, 2019
Accepted January 25, 2019
First published March 6, 2019.

Online issue publication

October 05, 2019

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© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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