SynthesisAmerican journal of medical genetics. Part A2018
Williams-Beuren syndrome in diverse populations.
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In one paragraph
Synthesis in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
4.9field-weighted citation impact, top 3% of its field
What it found
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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.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Growth assessment in children with Williams-Beuren syndrome: a systematic review.Journal of applied genetics · 2020Pooled it
- Unlocking 3D baby face photogrammetry: Multi-view BabyMorph reconstruction from uncalibrated photographs.Expert systems with applications · 2026Article
- Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Sphingosine kinase 1 is integral for elastin deficiency-induced arterial hypermuscularization.Nature cardiovascular research · 2026Article
- Observational study to preliminarily characterize the audiological profile of chinese children with williams syndrome.Journal of otology · 2025Article
- Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams-Beuren syndrome.Frontiers in pediatrics · 2025Article
- Diversity of Participants in Williams Syndrome Intervention Studies.Journal of autism and developmental disorders · 2024Article
- Optimization and evaluation of facial recognition models for Williams-Beuren syndrome.European journal of pediatrics · 2024Article
- Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion.BMJ case reports · 2024Article
- Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians.The application of clinical genetics · 2024Article
- Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.The British journal of ophthalmology · 2023Article
- A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.Turkish archives of pediatrics · 2023Article
- Diagnosis and clinical presentation of two individuals with a rareBMJ case reports · 2022Article
- Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.Molecular genetics & genomic medicine · 2022Article
- A case report of interventricular hemorrhage in William-Beuren syndrome.Annals of medicine and surgery (2012) · 2022Article
- Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.American journal of medical genetics. Part A · 2022Review
- Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo.European journal of medical genetics · 2021Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.Molecular genetics & genomic medicine · 2021Article
- Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.Birth defects research · 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
69 authors at 20 institutions in 20 countries.
Paul KruszkaMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.ORCID 0000-0003-4949-0875
Antonio R PorrasSheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.
Deise Helena de SouzaDepartment of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, São Paulo, Brazil.
Angélica MorescoServicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Victoria HuckstadtServicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Ashleigh D GillMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Alec P BoyleSheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.
Tommy HuMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Yonit A AddissieMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Gary T K MokDepartment of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China.
Cedrik Tekendo-NgongangDivision of Human Genetics, University of Cape Town, Cape Town, South Africa.
Karen FieggenDivision of Human Genetics, University of Cape Town, Cape Town, South Africa.
Eloise J PrijolesGreenwood Genetic Center, Greenwood, South Carolina.
Pranoot TanpaiboonRare Disease Institute, Children's National Medical Center, Washington, District of Columbia.
Engela HoneyDepartment of Genetics, University of Pretoria, Pretoria, South Africa.
Ho-Ming LukClinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China.ORCID 0000-0003-4066-4066
Ivan F M LoClinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China.
Meow-Keong ThongDepartment of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Premala MuthukumarasamyDepartment of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Kelly L JonesDivision of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
Khadija BelhassanMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Karim OuldimMedical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.
Ihssane El BouchikhiMedical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.
Laila BouguenouchMedical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.
Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.ORCID 0000-0002-8347-429X
Katta M GirishaDepartment of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.ORCID 0000-0002-0139-8239
Nirmala D SirisenaHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Vajira H W DissanayakeHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
C Sampath PaththinigeHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Rupesh MishraHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Monisha S KislingRare Disease Institute, Children's National Medical Center, Washington, District of Columbia.
Carlos R FerreiraRare Disease Institute, Children's National Medical Center, Washington, District of Columbia.ORCID 0000-0002-2697-1046
María Beatriz de HerrerosNational Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay.
Ni-Chung LeeDepartment of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Saumya S JamuarGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
Angeline LaiGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
Ee Shien TanGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
Jiin Ying LimGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
Cham Breana Wen-MinGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
Neerja GuptaDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Stephanie Lotz-EsquivelResearch Department, Hospital San Juan de Dios (CCSS), San José, Costa Rica.
Ramsés Badilla-PorrasMedical Genetics and Metabolism Department, Hospital Nacional de Niños (CCSS), San José, Costa Rica.
Dalia Farouk HussenDepartment of Human Cytogenetics, The National Research Centre, Cairo, Egypt.
Mona O El RubyClinical Genetics Department, National Research Centre, Cairo, Egypt.
Engy A AshaatClinical Genetics Department, National Research Centre, Cairo, Egypt.
Siddaramappa J PatilMazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.ORCID 0000-0001-7154-3449
Leah DowsettKapi'olani Medical Center for Women and Children, Honolulu, Hawaii.
Alison EatonDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.
Vorasuk ShotelersukCenter of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Ëben BadoeSchool of Medicine and Dentistry, College of Health Sciences, University of Ghana, Accra, Ghana.
Ambroise WonkamDivision of Human Genetics, University of Cape Town, Cape Town, South Africa.
María Gabriela ObregonServicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Brian H Y ChungDepartment of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China.
Milana TrubnykovaInstituto Nacional de Salud del Niño, Lima, Peru.
Jorge La SernaInstituto Nacional de Salud del Niño, Lima, Peru.
Bertha Elena Gallardo JugoInstituto Nacional de Salud del Niño, Lima, Peru.
Miguel Chávez PastorInstituto Nacional de Salud del Niño, Lima, Peru.
Hugo Hernán Abarca BarrigaInstituto Nacional de Salud del Niño, Lima, Peru.ORCID 0000-0002-0276-2557
Andre MegarbaneInstitut Jérôme Lejeune, Paris, France.
Beth A KozelNational Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
Mieke M van HaelstDepartment of Genetics, University Medical Centre, Utrecht, Utrecht, The Netherlands.
Roger E StevensonGreenwood Genetic Center, Greenwood, South Carolina.ORCID 0000-0002-1806-6345
Marshall SummarRare Disease Institute, Children's National Medical Center, Washington, District of Columbia.
A Adebowale AdeyemoCenter for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Colleen A MorrisDepartment of Pediatrics (Genetics Division), University of Nevada School of Medicine, Las Vegas, Nevada.
Danilo Moretti-FerreiraDepartment of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, São Paulo, Brazil.
Marius George LinguraruSheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.
Maximilian MuenkeMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
National Institutes of Health · USChildren's National · USInstituto Nacional de Salud del Niño · PEKK Women's and Children's Hospital · SGUniversity of Colombo · LKCentre Hospitalier Universitaire Hassan II · MAGarrahan Hospital · ARNational Research Centre · EGUniversity of Cape Town · ZADepartment of Health · CNGreenwood Genetic Center · USManipal Academy of Higher Education · INUniversidade Estadual Paulista (Unesp) · BRUniversity of Calgary · CAUniversity of Hong Kong · HKUniversity of Malaya · MYAll India Institute of Medical Sciences · INChildren's Hospital of The King's Daughters · USChulalongkorn University · THFondation Jérôme-Lejeune · FR
Funding
Williams syndrome: A Translational Approach to Mechanism and TreatmentZIAHL006210 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI KOZEL, BETH · 2016 to 2024
$10.4MSickle Africa Data Coordinating CenterU24HL135600 · NHLBI · UNIVERSITY OF CAPE TOWN · PI MULDER, NICOLA, WONKAM, AMBROISE · 2017 to 2025
$8.6MHearing Impairment Genetics Studies in Africa (HI-GENES Africa)U01HG009716 · NHGRI · UNIVERSITY OF CAPE TOWN · PI WONKAM, AMBROISE · 2017 to 2021
$1.2MIntramural NIH HHS Z99 HG999999NHGRI NIH HHS U01 HG009716NHLBI NIH HHS U24 HL135600
Abstract
Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses.
Indexed as
Biological Variation, PopulationGenetic HeterogeneityAnthropometryFaciesHumansPhenotypePopulation GroupsReproducibility of ResultsSensitivity and SpecificityWilliams SyndromeAfricaAsiadiverse populationsfacial analysis technologyLatin AmericaMiddle EastsyndromeWilliamsWilliams-Beuren
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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.