Clinical genetic testing for patients with autism spectrum disorders

…, Autism Consortium Clinical Genetics/DNA … - …, 2010 - publications.aap.org
… genetic syndrome, and genetic testing is crucial to identifying … X testing are currently
recommended as first-tier genetic tests, … test results, including those from karyotype, fragile X …

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

DM Werling, H Brand, JY An, MR Stone, L Zhu… - Nature …, 2018 - nature.com
… We present an analytical framework for testing association between cases and controls in …
annotation categories and develop methods to test their association with ASD risk by de novo …

Genetic risk in autism: new associations and clinical testing

CM Freitag - Expert opinion on medical diagnostics, 2011 - Taylor & Francis
Autism spectrum disorders (ASD) are a group of phenotypically and genetically … The
three disorders autism, Asperger syndrome (AS) and atypical autism/pervasive developmental …

Pathogenic yield of genetic testing in autism spectrum disorder

HK Harris, GD Sideridis, WJ Barbaresi, E Harstad - Pediatrics, 2020 - publications.aap.org
… Genetic testing is recommended for individuals with autism spectrum disorder (ASD). … Our
objectives were to determine the pathogenic yield of genetic testing, the variability in rate of …

[HTML][HTML] Association testing of copy number variants in schizophrenia and autism spectrum disorders

BJ Crespi, HJ Crofts - Journal of neurodevelopmental disorders, 2012 - Springer
… bases for associations of autism spectrum disorders and … of these CNVs in autism spectrum
disorders, especially among … in autism by pooling data from seven case control studies. …

Diagnostic tests for autism spectrum disorder (ASD) in preschool children

M Randall, KJ Egberts, A Samtani… - Cochrane database …, 2018 - cochranelibrary.com
… In both versions of the test; cutoff scores are provided for disorders across the autism spectrum,
including classical autism and ASD. Usually one module is administered per assessment…

Genetic testing for autism spectrum disorders

SC Bauer, ME Msall - Developmental disabilities research …, 2011 - Wiley Online Library
… on the autism spectrum may need to be … testing for ASD, including genetic etiologies of
ASD, known genetic disorders associated with ASD, and recommendations for genetic testing

A novel copy number variants kernel association test with application to autism spectrum disorders studies

X Zhan, S Girirajan, N Zhao, MC Wu, D Ghosh - Bioinformatics, 2016 - academic.oup.com
… Finally, association between CNVR and disease-related … in the trait using a score test for
variance components in a … the association between CNV and autism spectrum disorders, …

[HTML][HTML] Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder

N Garrido-Torres, R Marqués Rodríguez… - European Child & …, 2024 - Springer
tested with the recommended tests (fragile X and CMA). Children with dysmorphic features
and organic comorbidities were more likely to be genetic tested than … tested Autism Spectrum

Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD)

ML Cuccaro, K Czape, M Alessandri… - American Journal of …, 2014 - Wiley Online Library
… use of genetic testing and corresponding genetic services for children with Autism Spectrum
… with ASD was collected using the Center for Autism and Related Disabilities client registry. …