SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals-Reference-Cited by-同舟云学术

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Published:2019-04-24 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ng Bobby G.¹,Sosicka Paulina¹,Agadi Satish²,Almannai Mohammed²,Bacino Carlos A.²³,Barone Rita⁴⁵,Botto Lorenzo D.⁶,Burton Jennifer E.⁷,Carlston Colleen⁸,Chung Brian Hon‐Yin⁹,Cohen Julie S.¹⁰,Coman David¹¹¹²,Dipple Katrina M.¹³¹⁴¹⁵,Dorrani Naghmeh¹⁶,Dobyns William B.¹⁷¹⁸,Elias Abdallah F.¹⁹,Epstein Leon²⁰,Gahl William A.²¹²²,Garozzo Domenico⁵,Hammer Trine Bjørg²³,Haven Jaclyn¹⁹,Héron Delphine²⁴,Herzog Matthew¹⁵,Hoganson George E.⁷,Hunter Jesse M.²⁵,Jain Mahim¹⁰,Juusola Jane²⁶,Lakhani Shenela²⁷,Lee Hane¹⁵²⁸,Lee Joy²⁹³⁰,Lewis Katherine¹¹,Longo Nicola⁶^ORCID,Lourenço Charles Marques³¹,Mak Christopher C.Y.⁹^ORCID,McKnight Dianalee²⁶,Mendelsohn Bryce A.³²,Mignot Cyril²⁴,Mirzaa Ghayda¹⁷¹⁸,Mitchell Wendy³³³⁴,Muhle Hiltrud³⁵,Nelson Stanley F.¹⁵²⁸³⁶,Olczak Mariusz³⁷,Palmer Christina G.S.¹⁵³⁶³⁸,Partikian Arthur³⁹,Patterson Marc C.⁴⁰,Pierson Tyler M.⁴¹⁴²⁴³,Quinonez Shane C.⁴⁴,Regan Brigid M.⁴⁵,Ross M. Elizabeth²⁷^ORCID,Guillen Sacoto Maria J.²⁶,Scaglia Fernando²³⁴⁶,Scheffer Ingrid E.⁴⁵⁴⁷,Segal Devorah²⁷⁴⁸,Singhal Nilika Shah⁴⁹,Striano Pasquale⁵⁰,Sturiale Luisa⁵,Symonds Joseph D.⁵¹,Tang Sha²⁵,Vilain Eric⁵²,Willis Mary⁵³,Wolfe Lynne A.²¹²²,Yang Hui²⁶,Yano Shoji⁵⁴,Powis Zöe²⁵,Suchy Sharon F.²⁵,Rosenfeld Jill A.²⁶,Edmondson Andrew C.²,Grunewald Stephanie⁵⁵,Freeze Hudson H.⁵⁶

Affiliation:

1. Human Genetics Program, Sanford Burnham Prebys Medical Discovery InstituteLa Jolla California

2. Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas

3. Texas Children's HospitalHouston Texas

4. Department of Clinical and Experimental MedicineChild Neurology and PsychiatryUniversity of CataniaCatania Italy

5. CNR, Institute for Polymers, Composites and BiomaterialsCatania Italy

6. Departments of PediatricsDivision of Medical GeneticsUniversity of UtahSalt Lake City Utah

7. Department of PediatricsUniversity of Illinois College of MedicinePeoria Illinois

8. Department of PathologyUniversity of UtahSalt Lake City Utah

9. Department of Paediatrics & Adolescent MedicineLKS Faculty of MedicineThe University of Hong Kong Hong Kong SAR China

10. Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger InstituteBaltimore Maryland

11. Department of Metabolic MedicineQueensland Children's HospitalBrisbane Australia

12. Schools of Medicine, University of Queensland Brisbane, Griffith University Gold CoastBrisbane Australia

13. Department of PediatricsUniversity of WashingtonSeattle Washington

14. Seattle Children's HospitalSeattle Washington

15. Department of Human GeneticsUCLALos Angeles California

16. Department of PediatricsUCLALos Angeles California

17. Departments of PediatricsUniversity of WashingtonSeattle Washington

18. Center for Integrative Brain Research, Seattle Children's Research InstituteSeattle Washington

19. Department of Medical GeneticsShodair Children's HospitalHelena Montana

20. Northwestern University Feinberg School of MedicineChicago Illinois

21. Office of the Clinical Director, National Human Genome Research Institute, National Institutes of HealthBethesda Maryland

22. Undiagnosed Diseases Program, Common Fund, National Institutes of HealthBethesda Maryland

23. Danish Epilepsy Center‐FiladelfiaDianalund Denmark

24. APHP,Genetics DepartmentGH Pity SalpetriereCRMR Intellectual Disabilities of Rare CausesSorbonne UniversityParis France

25. Ambry GeneticsAliso Viejo California

26. GeneDxGaithersburg Maryland

27. Center for Neurogenetics Brain and Mind Research Institute Weill Cornell MedicineNew York New York

28. Department of Pathology and Laboratory MedicineUCLALos Angeles California

29. Department of Metabolic MedicineThe Royal Children's Hospital, Melbourne, Parkville, Victoria Australia

30. Department of PaediatricsUniversity of MelbourneParkville Victoria Australia

31. Clinical Genetics and Neurogenetics, Centro Universitario Estacio de Ribeirao PretoRibeirao Preto Brazil

32. Department of PediatricsDivision of Medical Genetics, University of California, San FranciscoSan Francisco California

33. Neurology Division Children's Hospital Los AngelesLos Angeles California

34. Department of NeurologyKeck School of Medicine, University of Southern CaliforniaLos Angeles California

35. Department of NeuropediatricsChristian‐Albrechts‐University of KielKiel Germany

36. Department of Psychiatry & Biobehavioral SciencesUCLALos Angeles California

37. Laboratory of Biochemistry, Faculty of Biotechnology, University of WroclawWroclaw Poland

38. Institute for Society and Genetics, UCLALos Angeles California

39. Departments of Pediatrics & NeurologyKeck School of Medicine of University of Southern CaliforniaLos Angeles California

40. Division of Child and Adolescent Neurology, Mayo ClinicRochester Minnesota

41. Department of PediatricsCedars‐Sinai Medical CenterLos Angeles California

42. Department of NeurologyCedars‐Sinai Medical CenterLos Angeles California

43. Board of Governors Regenerative Medicine Institute, Cedars‐Sinai Medical CenterLos Angeles California

44. Division of Genetics, Department of PediatricsMetabolism and Genomic Medicine, University of MichiganAnn Arbor Michigan

45. The University of Melbourne, Austin HealthMelbourne Australia

46. Joint BCM‐CUHK Center of Medical GeneticsPrince of Wales HospitalShaTin Hong Kong SAR

47. The University of Melbourne, Royal Children's Hospital, Florey Institute and Murdoch Children's Research InstituteMelbourne Australia

48. Department of Pediatrics, Division of Child NeurologyWeill Cornell MedicineNew York New York

49. Neurology & PediatricsUniversity of CaliforniaSan Francisco California

50. Department of NeurosciencesRehabilitationOphthalmologyGeneticsMaternal and Child HealthPediatric Neurology and Muscular Diseases UnitG. Gaslini InstituteUniversity of GenoaGenova Italy

51. Paediatric Neurosciences Research GroupRoyal Hospital for ChildrenQueen Elizabeth University HospitalsGlasgow UK

52. Center for Genetic Medicine Research, Children's National Medical CenterColumbia Washington

53. Department of PediatricsNaval Medical CenterSan Diego California

54. Department of PediatricsGenetics DivisionLAC+USC Medical CenterUniversity of Southern CaliforniaLos Angeles California

55. Department of PediatricsDivision of Human GeneticsChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania

56. Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCLLondon UK

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23731

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