ArticleInternational journal of molecular sciences2022
Episignature Mapping of
Open access · goldAbstract read
In one paragraph
Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.0field-weighted citation impact, top 25% 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
7 citing papers in PubMed, 14 citations in OpenAlex.
- The TRIP12's intrinsically disordered region induces chromatin condensates and interferes with nuclear processes.iScience · 2026Article
- E3 ubiquitin ligases: structural diversity, dysregulation in disease, and their emerging role in targeted therapeutic strategies.Frontiers in molecular biosciences · 2026Review
- Novel TRIP12 variants in two Lebanese patients with neurodevelopmental delay.BMC medical genomics · 2025Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Identification of the DNA methylation signature of Mowat-Wilson syndrome.European journal of human genetics : EJHG · 2024Article
- Molecular signatures in Mendelian neurodevelopment: a focus on ubiquitination driven DNA methylation aberrations.Frontiers in molecular neuroscience · 2024Review
- The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.European journal of human genetics : EJHG · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
35 authors at 16 institutions in 8 countries.
Liselot van der LaanDepartment of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0002-7800-8665
Kathleen RooneyDepartment of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada.ORCID 0000-0002-7871-8982
Mariëlle AldersDepartment of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Raissa RelatorVerspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Haley McConkeyDepartment of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada.
Jennifer KerkhofDepartment of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada.ORCID 0000-0003-1245-6606
Michael A LevyVerspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Peter LaufferDepartment of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0002-1174-7340
Mio AerdenCentre for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium.
Miel TheunisCentre for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0001-5445-5156
Eric LegiusCentre for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium.
Matthew L TedderGreenwood Genetic Center, Greenwood, SC 29646, USA.ORCID 0000-0003-0613-6702
Lisenka E L M VissersDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-6470-5497
Saskia KoeneDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Claudia RuivenkampDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Mariette J V HofferDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.ORCID 0000-0002-1812-7670
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.ORCID 0000-0003-2812-6492
Nuria C BramswigInstitute of Human Genetics, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.
Theresia HergetInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
Vanesa López GonzálezSección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER, 30120 Murcia, Spain.
Fernando Santos-SimarroInstitute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain.
Pernille M TørringDepartment of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.ORCID 0000-0002-7303-7619
Anne-Sophie Denomme-PichonUF6254 Innovation en Diagnostic Genomique des Maladies Rares, 21070 Dijon, France.ORCID 0000-0002-8986-8222
Bertrand IsidorService de Génétique Médicale, CHU de Nantes, 44000 Nantes, France.
Boris KerenDepartment of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, 75013 Paris, France.
Sophie JuliaService de Génétique Clinique, CHU Toulouse, 31300 Toulouse, France.
Elise SchaeferService de Génétique Clinique, CHU Toulouse, 31300 Toulouse, France.ORCID 0000-0003-1004-6814
Christine FrancannetService de Genetique Medicale, CHU de Clermont-Ferrand, 63000 Clermont-Ferrand, France.
Pierre-Yves MaillardInstitut Jérôme Lejeune, 75015 Paris, France.ORCID 0000-0002-7766-1072
Mala Misra-IsrieDepartment of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0003-2104-2667
Hilde Van EschCentre for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0002-9604-5726
Marcel M A M MannensDepartment of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Bekim SadikovicDepartment of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada.
Mieke M van HaelstDepartment of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Peter HennemanDepartment of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Amsterdam University Medical Centers · NLKU Leuven · BEWestern University · CALeiden University Medical Center · NLHeinrich Heine University Düsseldorf · DELondon Health Sciences Centre · CACentre Hospitalier Universitaire de Nantes · FRCentro de Investigación Biomédica en Red · ESEmma Kinderziekenhuis · NLFondation Jérôme-Lejeune · FRGreenwood Genetic Center · USHospital Universitario La Paz · ESOdense University Hospital · DKRadboud University Nijmegen · NLSorbonne Université · FRUniversität Hamburg · DE
Funding
Genome Canada Genomic Applications Partnership Program NALondon Health Sciences Molecular Diagnostics Development Fund NA
Abstract
Clark-Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the
Indexed as
X-Linked Intellectual DisabilityCarrier ProteinsFaciesGrowth DisordersHumansHydrocephalusObesityUbiquitinUbiquitin-Protein LigasesCarrier ProteinsTRIP12 protein, humanUbiquitinUbiquitin-Protein LigasesClark–Baraitser syndromeDNA methylationepisignatureintellectual disabilityTRIP12
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
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.