ReviewJournal of medical genetics2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Open access · bronzeAbstract readReview
In one paragraph
Review in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
60citing papers in PubMed, 2 pooled it
9.5field-weighted citation impact, top 2% 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
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 120 citations in OpenAlex.
- Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.PLoS genetics · 2023Pooled it
- Pooled it
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- DirectContacts2: a wiring diagram of human physical protein interactions.Nature communications · 2026Article
- Expanding the phenotype associated with biallelic SCNM1 variants.Human genomics · 2025Article
- The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.Nature communications · 2025Article
- TMEM138: From Biological Functions to Diseases.Physiological research · 2025Review
- A Novel Homozygous Variant inMolecular syndromology · 2025Article
- Genome-wide association study identifies novel susceptible loci and evaluation of polygenic risk score for chronic obstructive pulmonary disease in a Taiwanese population.BMC genomics · 2024Article
- Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review.BMC pregnancy and childbirth · 2024Review
- High Incidence ofBalkan medical journal · 2024Article
- Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene,Case reports in genetics · 2024Article
- Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin.International journal of molecular sciences · 2023Article
- Article
- Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.Human molecular genetics · 2023Article
- Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.American journal of medical genetics. Part A · 2023Review
- Article
- Primary cilia and actin regulatory pathways in renal ciliopathies.Frontiers in nephrology · 2023Review
- Article
- Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.Journal of medical genetics · 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
52 authors at 20 institutions in 12 countries.
Ange-Line BruelFHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
Brunella FrancoDepartment of Translational Medicine, Medical Genetics Ferderico II University of Naples, Naples, Italy.
Yannis DuffourdFHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
Julien ThevenonFHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
Laurence JegoFHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
Estelle LopezÉquipe EA42271 GAD, Université de Bourgogne, Dijon, France.
Jean-François DeleuzeCentre National de Génotypage, Evry, France.
Diane DoummarAPHP, hôpital TROUSSEAU, Centre de référence des malformations et maladies congénitales du cervelet et département de génétique, Paris, France.
Rachel H GilesDepartment of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.
Colin A JohnsonSection of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.
Martijn A HuynenCentre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Véronique ChevrierCentre de Recherche en Cancérologie de Marseille, Marseille, France.
Lydie BurglenAPHP, hôpital TROUSSEAU, Centre de référence des malformations et maladies congénitales du cervelet et département de génétique, Paris, France.
Manuela MorleoÉquipe EA42271 GAD, Université de Bourgogne, Dijon, France.
Isabelle DesguerresService de neurométabolisme, Hôpital Necker-Enfants Malades, CHU, Paris, France.
Geneviève PierquinService de Génétique, CHU, Liège, Belgium.
Bérénice DorayService de Génétique Médicale, Hôpital de Hautepierre, CHU, Strasbourg, France.
Brigitte Gilbert-DussardierCentre de Référence Maladies Rares, Université de Poitiers, Poitiers, France.
Bruno ReversadeLaboratory of Human Embryology and Genetics, Institute of Medical Biology, Singapore.
Elisabeth Steichen-GersdorfDepartment of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
Clarisse BaumannDépartement de Génétique, Unité Fonctionelle de Génétique Clinique, Hôpital Robert Debré, CHU, Paris, France.
Inusha PanigrahiGenetic-Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, PGIMER, Chandigarh, India.
Anne Fargeot-EspaliatPédiatrie Neonatalogie, Centre Hospitalier Général, Brive-la-Gaillarde, Brive-la-Gaillarde, France.
Anne DieuxCentre de Référence CLAD NdF, Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.
Albert DavidService de Génétique Médicale, Unité de Génétique Clinique, Hôpital Mère-Enfant, CHU, Nantes, France.
Alice GoldenbergService de Génétique, CHU de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, Rouen, France.
Ernie BongersDepartment of Human Genetics, Radboud University, Nijmegen, The Netherlands.
Dominique GaillardService de Génétique, Hôpital Maison Blanche, CHRU, Reims, France.
Jesús ArgenteDepartment of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Bernard AralLaboratoire de Génétique Moléculaire, PTB, CHU, Dijon, France.
Nadège GigotFHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
Judith St-OngeFHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
Daniel BirnbaumCentre de Recherche en Cancérologie de Marseille, Marseille, France.
Shubha R PhadkeDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Valérie Cormier-DaireDepartment of Translational Medicine, Medical Genetics Ferderico II University of Naples, Naples, Italy.
Thibaut EguetherProgram in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Gregory J PazourProgram in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Vicente Herranz-PérezLaboratorio de Neurobiología Comparada, Instituto Cavanilles, Universitat de València, CIBERNED, Valencia, Spain.
Jaclyn S GoldsteinDepartment of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA.
Laurent PasquierCentre de Référence Maladies Rares, Unité Fonctionnelle de Génétique Médicale, CHU, Rennes, France.
Philippe LogetLaboratoire d'Anatomie-Pathologie, CHU Rennes, Rennes, France.
Sophie SaunierINSERM U983, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.
André MégarbanéInstitut Jérôme Lejeune, Paris, France.
Olivier RosnetCentre de Recherche en Cancérologie de Marseille, Marseille, France.
Michel R LerouxDepartment of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.
John B WallingfordDepartment of Molecular Biosciences, Center for Systems and Synthetic Biology, University of Texas at Austin, Austin, Texas, USA.
Oliver E BlacqueSchool of Biomolecular and Biomedical Science, University College Dublin, Dublin, Ireland.
Maxence V NachuryDepartment of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA.
Tania Attie-BitachINSERM UMR1163, Université de Paris-Descartes-Sorbonne Paris Cité, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.
Jean-Baptiste RivièreFHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
Laurence FaivreFHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
Christel Thauvin-RobinetFHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.
Université de Bourgogne · FRCentre Hospitalier Universitaire de Rennes · FRHôpital Necker-Enfants Malades · FRStanford University · USUniversity of Massachusetts Chan Medical School · USAix-Marseille Université · FRAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de Liège · BECentre Hospitalier Universitaire de Reims · FRCentre Hospitalier Universitaire de Rouen · FRCentre National de la Recherche Scientifique · FRCentre National de Recherche en Génomique Humaine · FRFondation Jérôme-Lejeune · FRHôpital Armand-Trousseau · FRHôpital d'Enfants · FRHôpital d'Hautepierre · FRHôpital Jeanne de Flandre · FRHôpital Mère-Enfant · FRHôpital Robert-Debré · FRInnsbruck Medical University · AT
Funding
Comprehensive Sequencing and Analysis of Variation in NHLBI CohortsUC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2010 to 2010
$14.7MNorthwest Genomics CenterUC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2010 to 2010
$14.0MNorthwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0MIntraflagellar Transport Proteins in MiceR01GM060992 · NIGMS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI Gregory J Pazour · 2001 to 2026
$10.3MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2MMapping the CPLANE interactome, an extensive protein interaction network underlying human ciliopathiesR01HD085901 · NICHD · UNIVERSITY OF TEXAS AT AUSTIN · PI EDWARD M MARCOTTE, John B Wallingford · 2016 to 2026
$6.2MQuality control of the primary cilium proteomeR01GM089933 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Maxence V Nachury · 2010 to 2026
$5.8MARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6MARRA - NHLBI Lung Cohorts Sequencing ProjectUC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2010 to 2010
$2.6MWHI Sequencing Project (WHISP)UC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2010 to 2010
$2.4MWHI Sequencing Project (WHISP)RC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2009 to 2009
$2.1MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsUC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2010 to 2010
$1.5MMedical Research Council MR/K011154/1Medical Research Council MR/M000532/1NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS UC2 HL102923NHLBI NIH HHS UC2 HL102924NHLBI NIH HHS UC2 HL102925NHLBI NIH HHS UC2 HL102926NHLBI NIH HHS UC2 HL103010NICHD NIH HHS R01 HD085901NIGMS NIH HHS R01 GM060992NIGMS NIH HHS R01 GM089933
Abstract
Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the
Indexed as
Abnormalities, MultipleCiliary Motility DisordersEncephaloceleFaceFemaleHeterozygoteHumansMaleMutationOrofaciodigital SyndromesPolycystic Kidney DiseasesProteinsRetinitis PigmentosaProteinsciliopathiesoral-facial-digital syndromes
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
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.