Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome-Reference-Cited by-同舟云学术

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Published:2019-11-14 Issue:1 Volume:41 Page:150-168
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Hijazi Hadia¹^ORCID,Coelho Fernanda S.²³,Gonzaga‐Jauregui Claudia⁴^ORCID,Bernardini Laura⁵^ORCID,Mar Soe S.⁶,Manning Melanie A.⁷⁸,Hanson‐Kahn Andrea⁷⁹^ORCID,Naidu SakkuBai¹⁰¹¹,Srivastava Siddharth¹²,Lee Jennifer A.¹³^ORCID,Jones Julie R.¹³,Friez Michael J.¹³,Alberico Thomas¹⁴,Torres Barbara⁵,Fang Ping¹⁵,Cheung Sau Wai¹,Song Xiaofei¹,Davis‐Williams Angelique¹⁴,Jornlin Carly¹⁴,Wight Patricia A.¹⁶,Patyal Pankaj¹⁶,Taube Jennifer¹⁴,Poretti Andrea¹⁰,Inoue Ken¹⁷,Zhang Feng¹⁸,Pehlivan Davut¹¹⁹,Carvalho Claudia M. B.¹^ORCID,Hobson Grace M.¹⁴^ORCID,Lupski James R.¹²⁰²¹²²^ORCID

Affiliation:

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

2. Programa de Pós‐Graduação em Genética Departmento de Biologia GeralUFMGBelo Horizonte Minas Gerais Brazil

3. Instituto René RachouFIOCRUZBelo Horizonte Minas Gerais Brazil

4. Regeneron Genetics CenterRegeneron Pharmaceuticals, IncTarrytown New York

5. Medical Genetics DivisionIRCCS “Casa Sollievo della Sofferenza” FoundationSan Giovanni Rotondo (FG) Italy

6. Department of NeurologyWashington University School of MedicineSt. Louis Missouri

7. Division of Medical Genetics, Department of PediatricsStanford University School of MedicinePalo Alto California

8. Department of PathologyStanford University School of MedicinePalo Alto California

9. Department of GeneticsStanford University School of MedicinePalo Alto California

10. Departments of Neurology and PediatricsJohns Hopkins University School of MedicineBaltimore Maryland

11. Department of NeurogeneticsKennedy Krieger InstituteBaltimore Maryland

12. Department of NeurologyBoston Children's HospitalBoston Massachusetts

13. Molecular Diagnostic LaboratoryGreenwood Genetic CenterGreenwood South Carolina

14. Nemours Biomedical ResearchNemours/Alfred I. duPont Hospital for ChildrenWilmington Delaware

15. Clinical GenomicsWuXi NextCODECambridge Massachusetts

16. Department of Physiology and Biophysics, College of MedicineUniversity of Arkansas for Medical SciencesLittle Rock Arkansas

17. Department of Mental Retardation and Birth Defect Research, National Institute of NeuroscienceNational Center of Neurology and PsychiatryKodaira Japan

18. State Key Laboratory of Genetic Engineering at School of Life Sciences, Obstetrics and Gynecology Hospital, Institute of Reproduction and DevelopmentFudan UniversityShanghai China

19. Section of Neurology, Department of PediatricsBaylor College of MedicineHouston Texas

20. Human Genome Sequencing CenterBaylor College of MedicineHouston Texas

21. Department of PediatricsBaylor College of MedicineHouston Texas

22. Texas Children's HospitalHouston Texas

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23902

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5. Bahrambeigi V. Song X. Sperle K. Beck C. R. Hijazi H. Grochowski C. M. …Lupski J. R.(2019). Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed inPLP1copy number gain structural variants.Genome MedicineIn press.

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