ArticleJournal of medical genetics2019
Open access · hybridAbstract read
In one paragraph
Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
4.7field-weighted citation impact, top 5% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 41 citations in OpenAlex.
- Regulation of gene expression by alternative polyadenylation in health and disease.Nature reviews. Genetics · 2026Review
- The role of untranslated region variants in Mendelian disease: a review.European journal of human genetics : EJHG · 2025Review
- Systematic identification of pathogenic variants of non-small cell lung cancer in the promoters of DNA-damage repair genes.EBioMedicine · 2024Article
- An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.JAMA network open · 2024Article
- Evaluating possible maternal effect lethality and genetic background effects inbioRxiv : the preprint server for biology · 2024Article
- Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.PloS one · 2024Article
- Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.European journal of human genetics : EJHG · 2023Article
- Sequence variants contributing to dysregulated inflammatory responses across keratoconic cone surface in adolescent patients with keratoconus.Frontiers in immunology · 2023Article
- Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.Human genetics · 2022Article
- Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome medicine · 2022Article
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Enhancers regulate 3' end processing activity to control expression of alternative 3'UTR isoforms.Nature communications · 2022Article
- MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.American journal of human genetics · 2022Article
- Analysis Polyadenylation Signal Usage inAnimals : an open access journal from MDPI · 2022Article
- Hydroxylation of the Acetyltransferase NAA10 Trp38 Is Not an Enzyme-Switch in Human Cells.International journal of molecular sciences · 2021Article
- Article
- Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.American journal of medical genetics. Part A · 2021Review
- Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.Genes · 2021Article
- Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.American journal of medical genetics. Part A · 2021Article
- Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.BMC medical genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 12 institutions in 2 countries.
Jennifer J JohnstonNational Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.ORCID 0000-0002-1012-6358
Kathleen A WilliamsonMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.
Christopher M ChouDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Julie C SappNational Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.
Morad AnsariMRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Heather M ChapmanDepartment of Cell Biology and Human Anatomy, University of California Davis, Davis, California, USA.
David N CooperInstitute of Medical Genetics, Cardiff University, Cardiff, UK.
Tabib DabirNorthern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK.
Jeffrey N DudleyNational Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.
Richard J HoltFaculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
Nicola K RaggeFaculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
Alejandro A SchäfferComputational Biology Branch, National Center for Biotechnology Information, Bethesda, Maryland, USA.
Shurjo K SenLeidos Biomedical Research, Inc, Basic Science Program, Cancer & Inflammation, Frederick National Laboratory for Cancer Research, Bethesda, Maryland, USA.
Anne M SlavotinekDepartment of Pediatrics and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
David R FitzPatrickMRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.
Thomas M GlaserDepartment of Cell Biology and Human Anatomy, University of California Davis, Davis, California, USA.
Fiona StewartNorthern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK.
Graeme Cm BlackDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Leslie G BieseckerNational Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.
National Institutes of Health · USInstitute of Genetics and Cancer · GBOxford Brookes University · GBUniversity of California, Davis · USUniversity of Ulster · GBCardiff University · GBLeidos (United States) · USNational Center for Biotechnology Information · USUniversity of California, San Francisco · USUniversity of Manchester · GBUniversity of Michigan · USWestern General Hospital · GB
Funding
Rare & Mosaic Disorders Molecular ResearchZIAHG200328 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2009 to 2025
$26.8MSharing Aggregate Genomics Research Findings with Diverse Participants: A Pilot Study of an Innovative Design StrategyU01HG009599 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2017 to 2021
$16.3MPREDOCTORAL TRAINING IN GENETICST32GM007544 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MORAN, JOHN V. · 1985 to 2022
$11.3MClinical and Molecular Studies of MalformationsZ01HG200328 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE G · 2005 to 2008
$5.5MCase Studies In GeneticsZIALM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2009 to 2019
$4.6MGenetic Basis of Congenital AnophthalmiaR01EY019497 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GLASER, THOMAS M. · 2009 to 2020
$3.3MCase Studies In GeneticsZ01LM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2002 to 2008
$452kIntramural NIH HHS Z01 HG200328Intramural NIH HHS Z01 LM000097Medical Research Council MC_PC_U127561093Medical Research Council MC_UU_00007/3NEI NIH HHS R01 EY019497NHGRI NIH HHS U01 HG009599NIGMS NIH HHS T32 GM007544
Abstract
backgroundA single variant in
methodsThree families, including 15 affected individuals with syndromic X-linked microphthalmia, underwent analyses including linkage analysis, exome sequencing and targeted gene sequencing. The consequences of two identified variants in
resultsGenetic linkage analysis in family 1 supported a candidate region on Xq27-q28, which included
conclusionThese data show that PAS variants are the most common variant type in
Indexed as
3' Untranslated RegionsGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationPoly AAllelesAnophthalmosFemaleGenes, X-LinkedGenotypeHumansLod ScoreMaleMicrophthalmosN-Terminal Acetyltransferase AN-Terminal Acetyltransferase E3' Untranslated RegionsNAA10 protein, humanN-Terminal Acetyltransferase AN-Terminal Acetyltransferase EPoly ANaa10polyadenylation signal
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.