Williams–Beuren syndrome in diverse populations-Reference-Cited by-同舟云学术

Williams–Beuren syndrome in diverse populations

Published:2018-04-21 Issue:5 Volume:176 Page:1128-1136
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kruszka Paul¹^ORCID,Porras Antonio R.²,de Souza Deise Helena³,Moresco Angélica⁴,Huckstadt Victoria⁴,Gill Ashleigh D.¹,Boyle Alec P.²,Hu Tommy¹,Addissie Yonit A.¹,Mok Gary T. K.⁵,Tekendo‐Ngongang Cedrik⁶,Fieggen Karen⁶,Prijoles Eloise J.⁷,Tanpaiboon Pranoot⁸,Honey Engela⁹,Luk Ho‐Ming¹⁰^ORCID,Lo Ivan F. M.¹⁰,Thong Meow‐Keong¹¹,Muthukumarasamy Premala¹¹,Jones Kelly L.¹²,Belhassan Khadija¹¹³,Ouldim Karim¹³,El Bouchikhi Ihssane¹³¹⁴,Bouguenouch Laila¹³,Shukla Anju¹⁵^ORCID,Girisha Katta M.¹⁵^ORCID,Sirisena Nirmala D.¹⁶,Dissanayake Vajira H. W.¹⁶,Paththinige C. Sampath¹⁶,Mishra Rupesh¹⁶,Kisling Monisha S.⁸,Ferreira Carlos R.⁸^ORCID,de Herreros María Beatriz¹⁷,Lee Ni‐Chung¹⁸,Jamuar Saumya S.¹⁹,Lai Angeline¹⁹,Tan Ee Shien¹⁹,Ying Lim Jiin¹⁹,Wen‐Min Cham Breana¹⁹,Gupta Neerja²⁰,Lotz‐Esquivel Stephanie²¹,Badilla‐Porras Ramsés²²,Hussen Dalia Farouk²³,El Ruby Mona O.²⁴,Ashaat Engy A.²⁴,Patil Siddaramappa J.²⁵^ORCID,Dowsett Leah²⁶,Eaton Alison²⁷,Innes A. Micheil²⁷,Shotelersuk Vorasuk²⁸,Badoe Ëben²⁹,Wonkam Ambroise⁶,Obregon María Gabriela⁴,Chung Brian H. Y.⁵,Trubnykova Milana³⁰,La Serna Jorge³⁰,Gallardo Jugo Bertha Elena³⁰,Chávez Pastor Miguel³⁰,Abarca Barriga Hugo Hernán³⁰^ORCID,Megarbane Andre³¹,Kozel Beth A.³²,van Haelst Mieke M.³³,Stevenson Roger E.⁷^ORCID,Summar Marshall⁸,Adeyemo A. Adebowale³⁴,Morris Colleen A.³⁵,Moretti‐Ferreira Danilo³,Linguraru Marius George²,Muenke Maximilian¹

Affiliation:

1. Medical Genetics Branch, National Human Genome Research InstituteThe National Institutes of HealthBethesda Maryland

2. Sheikh Zayed Institute for Pediatric Surgical InnovationChildren's National Health SystemWashington District of Columbia

3. Department of Genetics, Institute of BiosciencesSao Paulo State University – UNESPSão Paulo Brazil

4. Servicio de GenéticaHospital de Pediatría GarrahanBuenos Aires Argentina

5. Department of Paediatrics and Adolescent Medicine, LKS Faculty of MedicineThe University of Hong Kong, Hong Kong Special Administrative RegionHongkong China

6. Division of Human GeneticsUniversity of Cape TownCape Town South Africa

7. Greenwood Genetic CenterGreenwood South Carolina

8. Rare Disease InstituteChildren's National Medical CenterWashington District of Columbia

9. Department of GeneticsUniversity of PretoriaPretoria South Africa

10. Clinical Genetic Service, Department of HealthHong Kong Special Administrative RegionHongkong China

11. Department of Paediatrics, Faculty of MedicineUniversity of MalayaKuala Lumpur Malaysia

12. Division of Medical Genetics and MetabolismChildren's Hospital of The King's DaughtersNorfolk Virginia

13. Medical Genetics and Oncogenetics UnitHassan II University HospitalFez Morocco

14. Laboratory of Microbial Biotechnology, Faculty of Sciences and TechniquesUniversity of Sidi Mohammed Ben AbdellahFez Morocco

15. Department of Medical Genetics, Kasturba Medical CollegeManipal UniversityManipal India

16. Human Genetics Unit, Faculty of MedicineUniversity of ColomboColombo Sri Lanka

17. National Secretariat for the Rights of People with Disabilities (SENADIS)Fernando de la Mora Paraguay

18. Department of Pediatrics and Medical GeneticsNational Taiwan University HospitalTaipei Taiwan

19. Genetics Service, Department of PaediatricsKK Women's and Children's HospitalSingapore Singapore

20. Division of Genetics, Department of PediatricsAll India Institute of Medical SciencesNew Delhi India

21. Research DepartmentHospital San Juan de Dios (CCSS)San José Costa Rica

22. Medical Genetics and Metabolism DepartmentHospital Nacional de Niños (CCSS)San José Costa Rica

23. Department of Human CytogeneticsThe National Research CentreCairo Egypt

24. Clinical Genetics DepartmentNational Research CentreCairo Egypt

25. Mazumdar Shaw Medical Center, Narayana Health CityBangalore India

26. Kapi'olani Medical Center for Women and ChildrenHonolulu Hawaii

27. Department of Medical Genetics and Alberta Children's Hospital Research InstituteCumming School of Medicine, University of CalgaryCalgary Alberta

28. Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of MedicineChulalongkorn UniversityBangkok Thailand

29. School of Medicine and Dentistry, College of Health SciencesUniversity of GhanaAccra Ghana

30. Instituto Nacional de Salud del NiñoLima Peru

31. Institut Jérôme LejeuneParis France

32. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, Department of PediatricsWashington University School of MedicineSt. Louis Missouri

33. Department of GeneticsUniversity Medical CentreUtrecht, Utrecht The Netherlands

34. Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of HealthBethesda Maryland

35. Department of Pediatrics (Genetics Division)University of Nevada School of MedicineLas Vegas Nevada

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38672

Reference35 articles.

1. Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance

2. Cai D. Zhang C. &He X.(2010).Unsupervised feature selection for multi‐cluster data. Paper presented at the Proceedings of the 16th ACM SIGKDD international conference on Knowledge discovery and data mining. ACM 333–342.

3. Cerrolaza J. J. Porras A. R. Mansoor A. Zhao Q. Summar M. &Linguraru M. G.(2016).Identification of dysmorphic syndromes using landmark‐specific local texture descriptors. Paper presented at the Biomedical Imaging (ISBI) 2016 IEEE 13th International Symposium on Biomedical Imaging. IEEE 1080–1083.

4. American Academy of Pediatrics: Health care supervision for children with Williams syndrome;Committee on Genetics;Pediatrics,2001

5. Support-vector networks

Cited by 59 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Williams–Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion;BMJ Case Reports;2024-07

2. 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;2024-07

3. Optimization and evaluation of facial recognition models for Williams-Beuren syndrome;European Journal of Pediatrics;2024-06-14

4. Machine Learning Models identify Signature Genes as potential Biomarkers for Hypertrophic Cardiomyopathy from Williams Syndrome;2024-02-29

5. Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review;Medicine;2023-10-27