DJ Morris-Rosendahl, MA Crocq - Dialogues in clinical …, 2020 - Taylor & Francis
This article describes the history of the diagnostic class of neurodevelopmental disorders (NDDs) up to DSM-5. We further analyze how the development of genetics will transform the …
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes spanning a wide range of biological functions,,,,–. The alterations in the human brain …
Both common and rare genetic variants influence complex traits and common diseases. Genome-wide association studies have identified thousands of common-variant …
D Kim, JM Paggi, C Park, C Bennett… - Nature biotechnology, 2019 - nature.com
The human reference genome represents only a small number of individuals, which limits its usefulness for genotyping. We present a method named HISAT2 (hierarchical indexing for …
S Jeste, C Hyde, C Distefano… - Journal of …, 2020 - Wiley Online Library
Background COVID‐19 restrictions have significantly limited access to in‐person educational and healthcare services for all, including individuals with intellectual and …
Personalized genome sequencing has revealed millions of genetic differences between individuals, but our understanding of their clinical relevance remains largely incomplete. To …
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the mechanisms by which the cellular machinery achieves such specificity are incompletely …