Genetic markers for autism profilesBruining, HEijkemans, M J CKas, M J HCurran, S RBolton, P FVorstman, J A S
et al. Autism spectrum disorders associated with X chromosome markers in French-Canadian males. Mol. Psychiatry 11, 206–213 (2006). CAS PubMed Google Scholar Fischbach, G. D. & Lord, C. The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron 68...
The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated genetic differences between autistic individuals (nmax = 12,893) based on core and associated features of
Garvin and Kainer looked for genetic markers of autism by considering genomic mutations, also known as structural variants—a new approach to explain ASD heritability. They believe their study shows, “a clearer mechanistic understanding of ASD.” They hope their discovery will lead to better diagnos...
Autism spectrum disorder (ASD) remains a complex puzzle, its pieces scattered across the landscape of genetics and neurobiology. In the quest to uncover its secret, large-scale genomic studies have been conducted on North American and European population
et al. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clin. Epigenetics 11, 103 (2019). Article CAS PubMed PubMed Central Google Scholar Butcher, D. T. et al. CHARGE and Kabuki syndromes: gene-specific DNA ...
a flow cell apparatus and reagents, a multiplex nucleotide sequencer and reagents, and additional hardware and software necessary to assay a genetic sample for certain genetic markers and to detect and visualize certain genetic markers.The
A method is provided for screening subjects for genetic markers associated with autism. The method involves isolating a biological sample from a mammal and then testing for the presence of a mutated gene or a product thereof which is associated with autism. Also disclosed are isolated nucleic ...
The present invention relates generally to genetic markers for autism spectrum disorders and other childhood developmental delay disorders, in particular to copy number variant gene
The present invention relates generally to genetic markers for duplication and/or deletion syndromes, such as Wolf-Hirschhorn syndrome (WHS), in particular to copy number variant ge