Microdeletions ofELP4Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation-Reference-Cited by-同舟云学术

Microdeletions ofELP4Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

Published:2015-06-30 Issue:9 Volume:36 Page:842-850
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Addis Laura¹²,Ahn Joo Wook³,Dobson Richard⁴,Dixit Abhishek⁴,Ogilvie Caroline M³,Pinto Dalila⁵,Vaags Andrea K⁶,Coon Hilary⁷,Chaste Pauline⁸,Wilson Scott⁹¹⁰¹¹,Parr Jeremy R¹²,Andrieux Joris¹³,Lenne Bruno¹⁴,Tumer Zeynep¹⁵,Leuzzi Vincenzo¹⁶,Aubell Kristina¹⁷,Koillinen Hannele¹⁸,Curran Sarah³,Marshall Christian R⁶¹⁹,Scherer Stephen W⁶²⁰,Strug Lisa J²¹,Collier David A²⁹,Pal Deb K¹

Affiliation:

1. Department of Basic and Clinical Neuroscience; Institute of Psychiatry, Psychology and Neuroscience, King's College London; London UK

2. Neuroscience Discovery Research; Eli Lilly and Company; Erl Wood Surrey UK

3. Department of Cytogenetics; Guy's and St Thomas’ NHS Foundation Trust; London UK

4. Department of Biostatistics and NIHR BRC for Mental Health; Institute of Psychiatry, Psychology and Neuroscience, King's College London; London UK

5. Departments of Psychiatry, and Genetics and Genomic Sciences; Seaver Autism Center, The Mindich Child Health & Development Institute, Icahn School of Medicine at Mount Sinai; New York New York

6. The Centre for Applied Genomics, The Hospital for Sick Children; Toronto Ontario Canada

7. Department of Psychiatry, University of Utah School of Medicine; Salt Lake City Utah

8. Department of Psychiatry; University of Pittsburgh School of Medicine; Pittsburgh Pennsylvania

9. Social, Genetic and Developmental Psychiatry Centre; Institute of Psychiatry, Psychology and Neuroscience, King's College London; London UK

10. Department of Endocrinology and Diabetes; Sir Charles Gairdner Hospital; Perth Western Australia Australia

11. School of Medicine and Pharmacology; University of Western Australia; Nedlands Western Australia Australia

12. Institute of Neuroscience; Newcastle University; Newcastle upon Tyne UK

13. Institut de Génétique Médicale; Hopital Jeanne de Flandre, CHRU de Lille; France

14. Centre de Génétique Chromosomique; GHICL, Hôpital Saint Vincent de Paul; Lille France

15. Applied Human Molecular Genetics; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital; Rigshospitalet Copenhagen Denmark

16. Department of Pediatrics, Child Neurology and Psychiatry, Sapienza Università di Roma; Rome Italy

17. Institute of Human Genetics; Medical University of Graz; Graz Austria

18. Department of Clinical Genetics; Helsinki University Hospital; Helsinki Finland

19. Department of Molecular Genetics; Paediatric Laboratory Medicine, The Hospital for Sick Children; Toronto Ontario Canada

20. McLaughlin Centre and Department of Molecular Genetics; University of Toronto; Toronto Ontario Canada

21. Program in Genetics and Genome Biology; The Hospital for Sick Children, Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto; Toronto Ontario Canada

Funder

European Commission

Ali Paris Fund for Landau-Kleffner Syndrome Research and Education Ali Paris Fund for Landau-Kleffner Syndrome Research and Education

Charles Sykes Epilepsy Research Trust

National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London

Waterloo Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22816/fullpdf

Reference49 articles.

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3. De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations;Aradhya;Am J Med Genet A,2011

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5. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism;Celestino-Soper;Proc Natl Acad Sci USA,2012

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