Open Access Highly Accessed Research article

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT

Guiqing Cai123, Lisa Edelmann4, Juliet E Goldsmith123, Ninette Cohen4, Alisa Nakamine123, Jennifer G Reichert123, Ellen J Hoffman123, Danielle M Zurawiecki123, Jeremy M Silverman23, Eric Hollander23, Latha Soorya23, Evdokia Anagnostou238, Catalina Betancur56 and Joseph D Buxbaum12347*

Author Affiliations

1 Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA

2 Seaver Autism Research Center, Mount Sinai School of Medicine, New York, NY 10029, USA

3 Departments of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA

4 Deparment of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA

5 INSERM U513, Paris, France

6 Université Pierre et Marie Curie, Paris, France

7 Department of Neuroscience, Mount Sinai School of Medicine, New York, NY 10029, USA

8 University of Toronto, Bloorview Kids Rehab, 150 Kilgour Road, Toronto, ON, M4G1R8, Canada

For all author emails, please log on.

BMC Medical Genomics 2008, 1:50  doi:10.1186/1755-8794-1-50

Published: 16 October 2008

Additional files

Additional File 1:

Chromosome position of genes scanned using MLPA probe with the associated genetic syndromes. Data were adapted from documentation for SALSA MLPA KIT P064 MR1, SALSA MLPA KIT P096 MR2 and SALSA MLPA KIT P106 MRX (MRC-Holland, Amsterdam, Netherlands) and OMIM (NCBI).

Format: XLS Size: 20KB Download file

This file can be viewed with: Microsoft Excel Viewer

Open Data

Additional File 2:

ADI-R and clinical features of individuals with duplications in 15q11 and 22q11.

Format: XLS Size: 25KB Download file

This file can be viewed with: Microsoft Excel Viewer

Open Data

Additional File 3:

ADI-R and sleep disorder features of individuals with duplications in PAR1/ASMT gene.

Format: XLS Size: 21KB Download file

This file can be viewed with: Microsoft Excel Viewer

Open Data