ArticleGenes2021
Schuurs-Hoeijmakers Syndrome (
Open access · goldAbstract read
In one paragraph
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.8field-weighted citation impact, top 9% 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
19 citing papers in PubMed, 25 citations in OpenAlex.
- PACS1 syndrome variant alters the proteomic landscape of developing cortical organoids.iScience · 2026Article
- Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.Clinical genetics · 2026Article
- DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.European journal of human genetics : EJHG · 2026Article
- Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.Behavioral sciences (Basel, Switzerland) · 2026Article
- Fetal Bradycardia Prompting the Diagnosis and Management of Parental Long QT Syndrome.Circulation. Arrhythmia and electrophysiology · 2025Article
- Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome.American journal of human genetics · 2025Article
- AI-Based Facial Phenotyping Supports a Shared Molecular Axis inInternational journal of molecular sciences · 2025Article
- Vertigo and dizziness in genetic neurodevelopmental disorders: an international cross-sectional study.Journal of neurology · 2025Article
- Article
- Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions?Journal of pediatric genetics · 2024Article
- PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.World journal of pediatrics : WJP · 2024Article
- Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?American journal of medical genetics. Part A · 2023Article
- Heart Disease Characterization and Myocardial Strain Analysis in Patients withJournal of clinical medicine · 2023Article
- First Report of Mexican Patients withMolecular syndromology · 2023Article
- Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.American journal of medical genetics. Part A · 2023Article
- Article
- Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.International journal of molecular sciences · 2022Review
- Schuurs-Hoeijmakers syndrome in a patient from Iraq - Kirkuk.Clinical case reports · 2021Article
- A Novel Multi-Exon Deletion ofFrontiers in genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors at 10 institutions in 2 countries.
Jair Tenorio-CastañoCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Beatriz MorteCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Julián NevadoCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.ORCID 0000-0001-5611-2659
Víctor Martinez-GlezCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.ORCID 0000-0002-4680-881X
Fernando Santos-SimarroCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.ORCID 0000-0002-1201-9118
Sixto García-MiñaúrCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
María Palomares-BraloCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Marta Pacio-MíguezCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Beatriz GómezCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Pedro AriasCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Alba AlcocheaFEDER (Spanish Federation for Rare Diseases), Calle del Dr. Castelo 49, 28009 Madrid, Spain.
Juan CarriónFEDER (Spanish Federation for Rare Diseases), Calle del Dr. Castelo 49, 28009 Madrid, Spain.
Patricia AriasFEDER (Spanish Federation for Rare Diseases), Calle del Dr. Castelo 49, 28009 Madrid, Spain.
Berta AlmogueraCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Fermina López-GrondonaThe SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain.
Isabel Lorda-SanchezCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Enrique Galán-GómezClinical Genetics, Head of the Pediatrics Service, Hospital Materno Infantil de Badajoz, Complejo Hospitalario Universitario de Badajoz, Professor of Pediatrics, Director of the Department of Biomedical Sciences, Faculty of Medicine, University of Extremadura, 06110 Plasencia, Spain.
Irene ValenzuelaIthaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain.ORCID 0000-0003-2350-6058
María Pilar Méndez PerezClinical Genetics, Hospital Materno Infantil de Badajoz, Complejo Hospitalario Universitario de Badajoz, University of Extremadura, 06006 Badajoz, Spain.
Ivón CuscóDepartment of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, 08002 Barcelona, Spain.
Francisco BarrosCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Juan PiéCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.ORCID 0000-0003-3203-6254
Sergio RamosCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Feliciano J RamosCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.ORCID 0000-0002-5732-2209
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany.
Eduardo TizzanoIthaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain.
Carmen AyusoCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.ORCID 0000-0002-9242-7065
Frank J KaiserInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany.
Luis A Pérez-JuradoCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.ORCID 0000-0002-1988-3005
Ángel CarracedoCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.ORCID 0000-0003-1085-8986
The ENoD-Ciberer Consortium
The Side ConsortiumThe SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain.
Pablo LapunzinaCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.ORCID 0000-0002-6324-4825
Hospital Universitario La Paz · ESInstituto de Salud Carlos III · ESFederación Española de Enfermedades Raras · ESHospital Materno-Infantil · ESUniversidad de Zaragoza · ESUniversity of Duisburg-Essen · DEHospital Universitario Fundación Jiménez Díaz · ESUniversidade de Santiago de Compostela · ESUniversitat Pompeu Fabra · ESVall d'Hebron Institut de Recerca · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
Schuurs-Hoeijmakers syndrome (SHMS) or
Indexed as
Abnormalities, MultipleFemaleHumansIntellectual DisabilityMaleMutationNeurodevelopmental DisordersPhenotypeSyndromeVesicular Transport ProteinsPACS1 protein, humanVesicular Transport Proteinsintellectual disabilityPACS1pathogenic variant c.607C >phosphofurin acidic cluster sorting protein 1rare disordersSchuurs–Hoeijmakers syndromeT
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.