ArticleHGG advances2022
Variants in
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
4.9field-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
18 citing papers in PubMed, 26 citations in OpenAlex.
- Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.Molecular and cellular pediatrics · 2026Article
- Homocysteine Attack on Vascular Endothelium-Old and New Features.International journal of molecular sciences · 2025Review
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Homocysteine Metabolites, Endothelial Dysfunction, and Cardiovascular Disease.International journal of molecular sciences · 2025Review
- Chromatin modifiers in neurodevelopment.Frontiers in molecular neuroscience · 2025Review
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.European journal of human genetics : EJHG · 2024Article
- PHF8/KDM7B: A Versatile Histone Demethylase and Epigenetic Modifier in Nervous System Disease and Cancers.Epigenomes · 2024Review
- Versatile JMJD proteins: juggling histones and much more.Trends in biochemical sciences · 2024Review
- A Genotype/Phenotype Study ofGenes · 2024Article
- Homocysteine Thiolactone Detoxifying Enzymes and Alzheimer's Disease.International journal of molecular sciences · 2024Review
- Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.Scientific reports · 2024Article
- Homocysteine metabolites inhibit autophagy by upregulating miR-21-5p, miR-155-5p, miR-216-5p, and miR-320c-3p in human vascular endothelial cells.Scientific reports · 2024Article
- Landscape of ConstitutionalGenes · 2024Review
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.The Journal of clinical investigation · 2024Article
- Epigenetic regulation ofAutophagy · 2024Review
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- Deletion of the Homocysteine Thiolactone Detoxifying Enzyme Bleomycin Hydrolase, in Mice, Causes Memory and Neurological Deficits and Worsens Alzheimer's Disease-Related Behavioral and Biochemical Traits in the 5xFAD Model of Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
40 authors at 20 institutions in 8 countries.
Andrew K SoberingAU/UGA Medical Partnership, Department of Basic Sciences, University of Georgia Health Sciences Campus, Athens, GA 30602, USA.
Laura M BryantCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Julie McGaughranGenetic Health Queensland, RBWH, Brisbane and The University of Queensland School of Medicine, Brisbane, QLD 4029, Australia.
Isabelle MaystadtCentre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.
Stephanie MoortgatCentre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.
John M GrahamMedical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA.
Arie van HaeringenLeiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands.
Claudia RuivenkampLeiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands.
Roos CuperusJuliana Children's Hospital, HAGA Medical Center, The Hague, the Netherlands.
Julie VogtBirmingham Women's and Children's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
Jenny MortonWest Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.
Charlotte Brasch-AndersenDepartment of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark.
Maria SteenhofDepartment of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark.
Lars Kjærsgaard HansenDepartment of Paediatrics, Odense University Hospital, Odense 5000, Denmark.
Élodie AdlerFédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
Stanislas LyonnetFédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
Veronique PingaultFédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
Marlin SandrineReference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
Alban ZieglerReference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France.
Tyhiesia DonaldClinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies.
Beverly NelsonClinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies.
Brandon HoltDepartment of Anatomical Sciences, St. George's University, Grenada, West Indies.
Oleksandra PetrynaHackensack University Ocean Medical Center, Department of Psychiatry, Hackensack, NJ 08724, USA.
Helen FirthDepartment of Clinical Genetics, Cambridge University Hospitals, Box 134, Cambridge CB2 0QQ, UK.
Kirsty McWalterClinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
Jacob ZyskindClinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
Aida TelegrafiClinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
Jane JuusolaClinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
Richard PersonClinical Genomics, GeneDx, Gaithersburg, MD 20877, USA.
Michael J BamshadSeattle Children's Hospital, Seattle, WA 98105, USA.
Dawn EarlSeattle Children's Hospital, Seattle, WA 98105, USA.
University of Washington Center for Mendelian Genomics
Anne Chun-Hui TsaiUniversity of Oklahoma, Section of Genetics, 800 Stanton L Young Boulevard, Oklahoma City, OK 73117, USA.
Katherine R YearwoodUniversity Health Services, St. George's University, Grenada, West Indies.
Elysa MarcoCortica Healthcare, Marin Center, 4000 Civic Center Dr, Ste 100, San Rafael, CA 94903, USA.
Catherine NowakBoston Children's Hospital, Division of Genetics and Genomics, 60 Temple Place, 2nd Floor, Boston, MA 02111, USA.
Jessica DouglasBoston Children's Hospital, Division of Genetics and Genomics, 60 Temple Place, 2nd Floor, Boston, MA 02111, USA.
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elizabeth J BhojCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
ID Genomics (United States) · USSt. George's University · GDUniversity of Washington · USOdense University Hospital · DKUniversity of Pennsylvania · USChildren's Hospital of Philadelphia · USInstitute of Pathology and Genetics · BELeiden University Medical Center · NLBirmingham Women’s and Children’s NHS Foundation Trust · GBBirmingham Women's Hospital · GBCambridge University Hospitals NHS Foundation Trust · GBCedars-Sinai Medical Center · USHaga Hospital · NLHôpital Necker-Enfants Malades · FRInstitut des Maladies Génétiques Imagine · FROcean Medical Center · USQueensland Health · AUSeattle Children's Hospital · USUniversité Paris Cité · FRUniversity of Southern Denmark · DK
Funding
University of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MThe Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ERIC D MARSH, ROBERT Thomas SCHULTZ · 2021 to 2026
$9.2MMEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MHiSeq X SequencerS10OD021553 · OD · UNIVERSITY OF WASHINGTON · PI NICKERSON, DEBORAH A · 2016 to 2016
$600kNHGRI NIH HHS U01 HG011744NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NICHD NIH HHS P50 HD105354NIGMS NIH HHS T32 GM008638NIH HHS S10 OD021553Wellcome Trust
Abstract
Loss-of-function variants in
Indexed as
epigenetic gene regulationhistone demethylationorofacial cleftingPHF8X-linked intellectual disability
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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.