ArticleNature communications2021
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
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In one paragraph
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
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53citing papers in PubMed, 1 pooled it
10.4field-weighted citation impact, top 1% of its field
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- Vascular Mechanisms in the Etiology of Hemifacial Microsomia: A Systematic Review of Epidemiological, Clinical, and Genetic Evidence.Birth defects research · 2026Pooled it
- Craniofacial development: genetics, signaling pathways, teratogenic mechanisms, and clinal significance.Molecular biomedicine · 2026Review
- Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.Human genetics · 2026Article
- Goldenhar Syndrome-Embryological, Anatomical, Etiopathogenic Mechanisms and Treatment of Obstructive Sleep Apnea.International journal of molecular sciences · 2026Review
- Partial Trisomy 20qter on a Derivative Chromosome 22 in a Northern Italian Genetic Isolate with Oculo-Auriculo-Vertebral Spectrum-Related Features.Balkan journal of medical genetics : BJMG · 2026Article
- FGFR1 frameshift mutation mediates the dysfunction of mesenchymal stem cells in craniofacial microsomia.Stem cell research & therapy · 2026Article
- Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk.Human genomics · 2026Article
- 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
- Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.Human molecular genetics · 2026Article
- Analysis of Craniofacial Microsomia and Facial Asymmetry: Approaches in Facial Feminization Surgery.Aesthetic surgery journal · 2026Article
- Article
- A novel spliceosomopathy caused by de novo SF3B3 variants.Genome medicine · 2026Article
- FOXI3 establishes the ectodermal niche in pharyngeal arches for cranial neural crest cells and their lineages.Bone research · 2026Article
- De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.Nature communications · 2026Article
- Functional Analysis of miR-148a: A Differentially Expressed microRNA in Hemifacial Microsomia.Current molecular medicine · 2026Article
- Bone and Cartilage Staining for Skeletal Preparations.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.Human genetics · 2025Article
- Splicing Defects and Cell Death CauseJournal of dental research · 2025Article
- Genetic correlation and causation of craniofacial microsomia with 33 diseases in Asian populations: insights from large-scale genome-wide cross-trait analysis.Scientific reports · 2025Article
- CommonGenome research · 2025Article
Corrections and comments
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Authors and funding
30 authors at 17 institutions in 5 countries.
Andrew T TimberlakeHansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA. andrew.timberlake@nyumc.org.ORCID 0000-0002-8926-9692
Casey GriffinDepartment of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA.
Carrie L HeikeDepartment of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.ORCID 0000-0003-2178-7730
Anne V HingDepartment of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.
Michael L CunninghamDepartment of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.
David ChitayatDivision of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Mark R DavisDepartment of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia.
Soghra J DoustGenetics Program, Peterborough Regional Health Centre, Peterborough, ON, Canada.
Amelia F DrakeDepartment of Otolaryngology/Head and Neck Surgery, University of North Carolina, Chapel Hill, NC, USA.
Milagros M Duenas-RoqueHospital Edgardo Rebagliati Martins, EsSalud, Lima, Peru.ORCID 0000-0001-8366-8740
Jack GoldblattGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.
Jonas A GustafsonDepartment of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.ORCID 0000-0002-5748-905X
Paula Hurtado-VillaPontificia Universidad Javeriana and Centro Médico Imbanaco, Cali, Colombia.
Alexis JohnsDivision of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Natalya KarpDepartment of Pediatrics, London Health Sciences Centre, Division of Medical Genetics, Western University, London, ON, Canada.
Nigel G LaingNeurogenetic Diseases Group, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
Leanne MageeDivision of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
University of Washington Center for Mendelian Genomics
Sureni V MullegamaGeneDx, Gaithersburg, MD, USA.
Harry PachajoaUniversidad Icesi and Fundacion Clinica Valle del Lili, Cali, Colombia.
Gloria L Porras-HurtadoClinica Comfamiliar Risaralda, Pereira, Colombia.
Rhonda E SchnurGeneDx, Gaithersburg, MD, USA.
Jennie SleeGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.
Steven L SingerPerth Children's Hospital, Nedlands, WA, Australia.
David A StaffenbergHansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA.
Andrew E TimmsCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
Cheryl A WiseDepartment of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia.
Ignacio ZaranteHuman Genomics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia.ORCID 0000-0002-0729-6866
Jean-Pierre Saint-JeannetDepartment of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA.
Daniela V LuquettiDepartment of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA. luquetti@uw.edu.
Seattle Children's Hospital · USKing Edward Memorial Hospital · AUNew York University · USNYU Langone Health · USPontificia Universidad Javeriana · COQueen Elizabeth II Medical Centre · AUChildren's Hospital of Los Angeles · USChildren's Hospital of Philadelphia · USCooper Medical School of Rowan University · USHospital Nacional Cayetano Heredia · PEIcesi University · COMount Sinai Hospital · CAPrincess Margaret Hospital for Children · AUThe University of Western Australia · AUUniversity of North Carolina at Chapel Hill · USUniversity of Washington · USWestern University · CA
Funding
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MCraniofacial Microsomia: Genetic Causes and Pathway DiscoveryU01DE025862 · NIDCR · SEATTLE CHILDREN'S HOSPITAL · PI HEIKE, CARRIE LYN · 2017 to 2021
$3.0MPathogenesis of craniofacial defects in Nager syndromeR01DE025468 · NIDCR · NEW YORK UNIVERSITY · PI SAINT-JEANNET, JEAN-PIERRE · 2016 to 2020
$2.0MPlanning Grant for Genome-Wide Association Study of Craniofacial MicrosomiaRC1DE020270 · NIDCR · SEATTLE CHILDREN'S HOSPITAL · PI HEIKE, CARRIE LYN, STARR, JACQUELINE R · 2009 to 2010
$955kPhenotypic and Genomic Characterization of Microtia in the Andean PopulationR00DC011282 · NIDCD · SEATTLE CHILDREN'S HOSPITAL · PI LUQUETTI, DANIELA VARELA · 2013 to 2015
$739kNHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NIDCD NIH HHS R00 DC011282NIDCR NIH HHS R01 DE025468NIDCR NIH HHS RC1 DE020270NIDCR NIH HHS U01 DE025862
Abstract
Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10
Indexed as
HaploinsufficiencyAdolescentAdultAnimalsChildExomeFemaleGenetic Association StudiesGoldenhar SyndromeHumansInfantMaleMutationNeural CrestPedigreeRNA Splicing FactorsRNA Splicing FactorsSF3B2 protein, human
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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.