ArticleHGG advances2022
Open 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. Cited by 15 papers.
0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.7field-weighted citation impact, top 16% 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
15 citing papers in PubMed, 20 citations in OpenAlex.
- Functional characterization of 42 CK2α de novo variants associated with Okur-Chung neurodevelopmental syndrome.The FEBS journal · 2026Article
- CSNK2B-associated epilepsy: family report and literature review.Acta epileptologica · 2026Article
- Systematic CRISPRi perturbation of 1,408 autism risk genes maps multilevel transcriptional convergence in human cortical neurons.bioRxiv : the preprint server for biology · 2026Article
- Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.EBioMedicine · 2025Article
- CSNK2B Mutation: A Rare Cause of IGHD.Clinical endocrinology · 2025Article
- Rapid method for evaluation of CK2 enzymatic activity and CK2α/CK2β-interaction inBiological chemistry · 2025Article
- GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.medRxiv : the preprint server for health sciences · 2024Article
- GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.Research square · 2024Article
- Article
- Casein Kinase 2 Affects Epilepsy by Regulating Ion Channels: A Potential Mechanism.CNS & neurological disorders drug targets · 2024Review
- Case report: Novel deletions in the 6p21.33 involving theFrontiers in medicine · 2024Article
- Lung development genes, adult lung function and cognitive traits.Brain communications · 2024Article
- Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?American journal of medical genetics. Part A · 2023Article
- Article
- Predictive functional, statistical and structural analysis ofFrontiers in molecular biosciences · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors at 14 institutions in 8 countries.
Maria AsifCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
Emrah KaygusuzCenter for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
Marwan ShinawiDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Anna NickelsenInstitute of Pharmaceutical and Medicinal Chemistry, Westphalian Wilhelms-University, Münster, Germany.
Tzung-Chien HsiehInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich Wilhelms, Universität Bonn, Bonn, Germany.
Prerana WagleCologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Birgit S BuddeCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
Jennifer HochscherfDepartment of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.
Uzma AbdullahUniversity Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University, Rawalpindi, Pakistan.
Stefan HöningCenter for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
Christian NienbergInstitute of Pharmaceutical and Medicinal Chemistry, Westphalian Wilhelms-University, Münster, Germany.
Dirk LindenblattDepartment of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.
Angelika A NoegelCenter for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
Janine AltmüllerCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
Holger ThieleCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
Susanne MotamenyCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
Nicole FleischerFDNA Inc., Boston, MA, USA.
Idan SegalHospital Center, Safed, Israel.
Lynn PaisCenter for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sigrid TinschertZentrum Medizinische Genetik, Medizinische Universität, Innsbruck, Austria.
Nadra Nasser SamraHospital Center, Safed, Israel.
Juliann M SavattGenomic Medicine Institute, Geisinger, Danville, PA, USA.
Natasha L RudyDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Chiara De LucaDepartment of Life, Health and Environmental Science, University of L'Aquila, 67100 L'Aquila, Italy.
Italian Undiagnosed Diseases Network
Paola FortugnoDepartment of Life, Health and Environmental Science, University of L'Aquila, 67100 L'Aquila, Italy.
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Peter KrawitzInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich Wilhelms, Universität Bonn, Bonn, Germany.
Anna C E HurstDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Karsten NiefindDepartment of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.
Joachim JoseInstitute of Pharmaceutical and Medicinal Chemistry, Westphalian Wilhelms-University, Münster, Germany.
Francesco BrancatiDepartment of Life, Health and Environmental Science, University of L'Aquila, 67100 L'Aquila, Italy.
Peter NürnbergCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
Muhammad Sajid HussainCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
University of Cologne · DEUniversity of Münster · DEUniversity of Alabama at Birmingham · USUniversity of Bonn · DEVita-Salute San Raffaele University · ITBar-Ilan University · ILBilecik Şeyh Edebali Üniversitesi · TRBroad Institute · USInnsbruck Medical University · ATPir Mehr Ali Shah Arid Agriculture University · PKRebecca Sieff Hospital · ILThe University of Melbourne · AUUniversity of L'Aquila · ITWashington University in St. Louis · US
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MWUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JOSEPH D DOUGHERTY, Natasha Marrus · 2020 to 2026
$15.5MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9MNHGRI NIH HHS R01 HG009141NHGRI NIH HHS UM1 HG008900NICHD NIH HHS P50 HD103525
Abstract
PubMed holds no abstract for this paper.
Indexed as
CK2CK2αCK2βCSNK2BDVL3GestaltMatcherintellectual disability-craniodigital syndromePOBINDSwhole-phosphoproteome profilingwhole transcriptome profilingWnt signalingβ-catenin
Identifiers
What OpenQuestion holds
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Read underepoch 390
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.