The search for autism disease genes

TH Wassink, LM Brzustowicz… - Mental retardation …, 2004 - Wiley Online Library
Autism is a heritable disorder characterized by phenotypic and genetic complexity. This
review begins by surveying current linkage, gene association, and cytogenetic studies …

[HTML][HTML] Autism spectrum disorders: an updated guide for genetic counseling

K Griesi-Oliveira, AL Sertié - Einstein (Sao Paulo), 2017 - SciELO Brasil
Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has
hampered the identification of the etiological factors in each patient and, consequently, the …

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

MC Aspromonte, M Bellini, A Gasparini… - Human …, 2019 - Wiley Online Library
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically
heterogeneous diseases. Recent whole exome sequencing studies indicated that genes …

[HTML][HTML] The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

DH Geschwind, J Sowinski, C Lord, P Iversen… - The American Journal of …, 2001 - cell.com
Scientific oversight for the program is provided by a Steering Committee, which includes
researchers from the fields of genetics and autism. Human subjects protection oversight is …

Genetics of autism: overview and new directions

P Szatmari, MB Jones, L Zwaigenbaum… - Journal of autism and …, 1998 - Springer
Genetic epidemiology is the study of inherited factors involved in the etiology of a disease or
disorder and uses the methods of both medical genetics and clinical epidemiology. In …

[HTML][HTML] Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

C Lintas, AM Persico - Journal of medical genetics, 2009 - jmg.bmj.com
Autism spectrum disorders represent a group of developmental disorders with strong genetic
underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause …

[图书][B] Multiple autisms: Spectrums of advocacy and genomic science

JS Singh - 2015 - books.google.com
Is there a gene for autism? Despite a billion-dollar, twenty-year effort to find out—and the
more elusive the answer, the greater the search seems to become—no single autism gene …

[图书][B] Understanding autism: from basic neuroscience to treatment

SO Moldin, JLR Rubenstein - 2006 - books.google.com
" One can predict that this authoritative collection of essays, representing almost all of the
leading workers in this important and growing field of research, will move autism research …

The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress

AB Arnett, S Trinh, RA Bernier - Current opinion in psychology, 2019 - Elsevier
Highlights•Heterogeneity in autism spectrum disorder presents a challenge to clinical care
and research.•Genetic sequencing indicates disruptive gene variants and CNVs account for …