ArticleInternational journal of molecular sciences2021
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
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Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14citing papers in PubMed
4.8field-weighted citation impact, top 5% of its field
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Goldenhar Syndrome-Embryological, Anatomical, Etiopathogenic Mechanisms and Treatment of Obstructive Sleep Apnea.International journal of molecular sciences · 2026Review
- Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026Article
- Epimutations in migraine and in medication overuse headache: a longitudinal study after acute medication withdrawal.The journal of headache and pain · 2026Article
- Can some metabolic one-carbon cycle linked diseases be prevented? The impact of treating hypo-fertile couples carrying MTHFR SNPs with folic acid and 5-MTHF on outcomes in the offspring: a case retrospective series.Journal of assisted reproduction and genetics · 2025Article
- Epigenetic patterns, accelerated biological aging, and enhanced epigenetic drift detected 6 months following COVID-19 infection: insights from a genome-wide DNA methylation study.Clinical epigenetics · 2024Article
- Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.medRxiv : the preprint server for health sciences · 2024Article
- Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency.Molecular genetics & genomic medicine · 2024Article
- Genetics and Epigenetics in the Genesis and Development of Microtia.The Journal of craniofacial surgery · 2024Article
- Role of epigenetics in the clinical evolution of COVID-19 disease. Epigenome-wide association study identifies markers of severe outcome.European journal of medical research · 2023Article
- Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.Journal of endocrinological investigation · 2023Article
- Exploring epigenetic drift and rare epivariations in amyotrophic lateral sclerosis by epigenome-wide association study.Frontiers in aging neuroscience · 2023Article
- Epigenetics of Autism Spectrum Disorders: A Multi-level Analysis Combining Epi-signature, Age Acceleration, Epigenetic Drift and Rare Epivariations Using Public Datasets.Current neuropharmacology · 2023Article
- Adhesion molecule Amigo2 is involved in the fasciculation process of the fasciculus retroflexus.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.Life (Basel, Switzerland) · 2022Article
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Authors and funding
23 authors at 13 institutions in 2 countries.
Valentina GuidaMedical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.
Luciano CalzariIstituto Auxologico Italiano IRCCS, Bioinformatics and Statistical Genomics Unit, Cusano Milanino, 20095 Milano, Italy.ORCID 0000-0003-4283-0988
Maria Teresa FaddaDepartment of Maxillofacial Surgery, Sapienza University of Rome, 00161 Rome, Italy.
Francesca Piceci-SparascioMedical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.
Maria Cristina DigilioGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165 Rome, Italy.
Laura BernardiniMedical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.ORCID 0000-0002-3554-2817
Francesco BrancatiDepartment of Life, Health and Environmental Sciences, Unit of Medical Genetics University of L'Aquila, 67100 L'Aquila, Italy.ORCID 0000-0003-3624-2354
Teresa MattinaMedical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95131 Catania, Italy.ORCID 0000-0001-6143-6682
Daniela MelisDepartment of Medicine, Surgery and Dentistry, University of Salerno, 84084 Salerno, Italy.ORCID 0000-0002-9458-3926
Francesca ForzanoClinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.
Silvana BriugliaMedical Genetics, University of Messina, 98125 Messina, Italy.ORCID 0000-0002-5213-441X
Tommaso MazzaUnit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.ORCID 0000-0003-0434-8533
Sebastiano BiancaCentro di Consulenza Genetica e Teratologia della Riproduzione, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, 95123 Catania, Italy.
Enza Maria ValenteDepartment of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-0600-6820
Leila Bagherjad SalehiTor Vergata University Hospital, Medical Genetics Unit, PTV, 00133 Rome, Italy.
Paolo PronteraMedical Genetics Unit, University of Perugia Hospital SM della Misericordia, 06129 Perugia, Italy.
Mario PagnoniDepartment of Maxillofacial Surgery, Sapienza University of Rome, 00161 Rome, Italy.
Romano TenconiDepartment of Pediatrics, Clinical Genetics, Università di Padova, 35122 Padova, Italy.
Bruno DallapiccolaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165 Rome, Italy.
Giorgio IannettiDepartment of Maxillofacial Surgery, Sapienza University of Rome, 00161 Rome, Italy.
Luigi CorsaroDepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0003-1218-230X
Alessandro De LucaMedical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.ORCID 0000-0002-4408-8062
Davide GentiliniIstituto Auxologico Italiano IRCCS, Bioinformatics and Statistical Genomics Unit, Cusano Milanino, 20095 Milano, Italy.
Casa Sollievo della Sofferenza · ITSapienza University of Rome · ITUniversity of Pavia · ITBambino Gesù Children's Hospital · ITBiogem · ITGuy's and St Thomas' NHS Foundation Trust · GBIRCCS Istituto Auxologico Italiano · ITUniversity of Catania · ITUniversity of L'Aquila · ITUniversity of Messina · ITUniversity of Padua · ITUniversity of Perugia · ITUniversity of Salerno · IT
Funding
This research was funded by the Italian Ministry of Health RC2019, and RC2020 to A.D.L.
Abstract
Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from abnormal development of the first and second branchial arch. The clinical phenotype is extremely heterogeneous with ear anomalies, hemifacial microsomia, ocular defects, and vertebral malformations being the main features.
Indexed as
DNA MethylationEpigenesis, GeneticGenome-Wide Association StudyComputational BiologyCpG IslandsFemaleGene Expression ProfilingGenetic Association StudiesGenetic Predisposition to DiseaseGoldenhar SyndromeHumansMaleMolecular Sequence AnnotationPhenotypeDNA-methylationgenome-wideinfinium human methylation 450K beadchipOAVSoculo-auriculo-vertebral spectrumretinoic acid
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