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Paper Details

<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia.
J Med Genet
22
2019
3' UTRs, G, Lenz microphthalmia syndrome, Mendelian disorders, N, N-acetyltransferase 10, NAA10, NAA10 PAS variants, NAA10 mRNA, NAA10 polyadenylation signal, NAA10 polyadenylation signal (PAS) variant, NAA10 polyadenylation signal variants, PAS, PAS variants, RNA, Xq27-, anophthalmia, c, c.*43A, c.471+2T, chrX:153,195,, chrX:g, chrX:g.153,195,401T, gnomAD, microphthalmia, q28, syndromic X-linked microphthalmia, syndromic microphthalmia
3' Untranslated Regions, Alleles, Anophthalmos, Female, Genes, X-Linked, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Lod Score, Male, Microphthalmos, N-Terminal Acetyltransferase A, N-Terminal Acetyltransferase E, Pedigree, Poly A, Sequence Analysis, DNA, X Chromosome Inactivation
Author NameAffiliation
Jennifer J JohnstonNational Institutes of Health, National Human Genome Research Institute
Jennifer J JohnstonNational Institutes of Health, National Human Genome Research Institute
Kathleen A WilliamsonUniversity of Edinburgh
Christopher M ChouUniversity of Michigan Medical School ann arbor
Christopher M ChouThe Permanente Medical Group (TPMG)
Julie C SappNational Institutes of Health, National Human Genome Research Institute
Morad AnsariMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
Morad AnsariWestern General Hospital
Heather M ChapmanUniversity of California Davis
David N CooperInstitute of Medical Genetics, Cardiff University
David N CooperInstitute of Medical Genetics, Cardiff University
Tabib DabirBelfast City Hospital
Jeffrey N DudleyNational Institutes of Health, National Human Genome Research Institute
Richard HoltOxford Brookes University
Nicola K RaggeOxford Brookes University
Nicola K RaggeWest Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust
Alejandro A Sch??fferNational Center for Biotechnology Information
Alejandro A Sch??fferNational Cancer Institute
Shurjo K SenFrederick National Laboratory for Cancer Research
Anne SlavotinekDepartment of Pediatrics and Institute for Human Genetics, University of California San Francisco
Anne SlavotinekDepartment of Pediatrics and Institute for Human Genetics, University of California San Francisco
David R FitzPatrickUniversity of Edinburgh
Thomas M GlaserUniversity of California Davis
Thomas M GlaserUniversity of California Davis
Fiona StewartBelfast City Hospital
Graeme C M BlackUniversity of Manchester
Graeme C M BlackSt Mary's Hospital, Manchester University NHS Foundation Trust
Leslie G BieseckerNational Institutes of Health, National Human Genome Research Institute
Leslie G BieseckerNational Institutes of Health, National Human Genome Research Institute
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