ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Open access · bronzeAbstract readPublished Erratum
In one paragraph
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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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.
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Corrections and comments
- Erratum for
Authors and funding
56 authors at 20 institutions in 9 countries.
Joanna KennedyClinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.
David GoudieClinical Genetics, Ninewells Hospital & Medical School, Dundee, UK.
Edward BlairOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Kate ChandlerManchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester Foundation NHS Trust, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
Shelagh JossWest of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
Victoria McKayCheshire & Merseyside Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK.
Andrew GreenDepartment of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
Ruth ArmstrongEast Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
Melissa LeesClinical Genetics, Great Ormond Street Hospital NHS Trust, London, UK.
Benjamin KamienHunter Genetics, Newcastle, Australia.
Bruce HopperHunter Genetics, Newcastle, Australia.
Tiong Yang TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Patrick YapVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Nobuhiko OkamotoDepartment of Medical Genetics, Osaka Medical Center, Osaka, Japan.
Noriko MiyakeDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ellen MacnamaraNational Human Genome Research Institute, NIH, Bethesda, MD, USA.
Jennifer L MurphyNational Human Genome Research Institute, NIH, Bethesda, MD, USA.
Elizabeth McCormickDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Marni J FalkDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Patrick BlackburnCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Eric KleeCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Dusica Babovic-VuksanovicCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Susan SchelleyDivision of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
Louanne HudginsDivision of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
Sarina KantDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bertrand IsidorService de Génétique Médicale, CHU Nantes, Nantes, France.
Benjamin CogneService de Génétique Médicale, CHU Nantes, Nantes, France.
Kimberley BradburyClinical Genetics Guys and St Thomas' NHS Foundation Trust, Guys Hospital, London, UK.
Mark WilliamsMolecular Diagnostics, Mater Group, South Brisbane, Queensland, Australia.
Chirag PatelGenetic Health Queensland, Herston, Brisbane, Queensland, Australia.
Helen HeusslerChild Development Service, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
Celia Duff-FarrierBristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
Phillis LakemanAcademic Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.
Ingrid ScurrClinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.
Usha KiniOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Mariet EltingKlinisch Geneticus, VU Medisch centrum, Amsterdam, The Netherlands.
Margot ReijndersRadboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.
Janneke Schuurs-HoeijmakersRadboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.
Mohamed WafikOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Anne BlomhoffDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Claudia A L RuivenkampKlinische Genetica, Leiden University, Leiden, The Netherlands.
Esther NibbelingDepartment of Genetics, University of Groningen, Groningen, The Netherlands.
Alexander J M DingemansRadboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.
Emilie D DouineDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Stanley F NelsonDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
DDD Study
Maja HempelInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
Tatjana BierhalsInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
Davor LesselInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
Jessika JohannsenDepartment of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
Valerie A Arboleda *Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.
Ruth Newbury-Ecob *Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK. Ruth.Newbury-Ecob@UHBristol.nhs.uk.
Children's Hospital of Philadelphia · USMurdoch Children's Research Institute · AURadboud University Medical Center · NLUniversity of California, Los Angeles · USChurchill Hospital · GBGénétique Médicale & Génomique Fonctionelle · FRHunter Genetics · AUMayo Clinic in Florida · USNational Human Genome Research Institute · USStanford University · USUniversität Hamburg · DEUniversity Medical Center Hamburg-Eppendorf · DEUniversity of Bristol · GBYokohama City University · JPAcademic Medical Center · NLAddenbrooke's Hospital · GBGuy's Hospital · GBLeiden University · NLLeiden University Medical Center · NLManchester Academic Health Science Centre · GB
Funding
No grant is acknowledged in the PubMed record.
Abstract
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Identifiers
What OpenQuestion holds
Textmetadata
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Registered trials
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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.