[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
Psychiatric genetics and the structure of psychopathology
For over a century, psychiatric disorders have been defined by expert opinion and clinical
observation. The modern DSM has relied on a consensus of experts to define categorical …
observation. The modern DSM has relied on a consensus of experts to define categorical …
Interrogating the genetic determinants of Tourette's syndrome and other tic disorders through genome-wide association studies
Objective: Tourette's syndrome is polygenic and highly heritable. Genome-wide association
study (GWAS) approaches are useful for interrogating the genetic architecture and …
study (GWAS) approaches are useful for interrogating the genetic architecture and …
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common
and most severe of congenital brain arteriovenous malformations, we performed an …
and most severe of congenital brain arteriovenous malformations, we performed an …
Autism spectrum disorder genetics and the search for pathological mechanisms
Recent progress in the identification of genes and genomic regions contributing to autism
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …
Tourette syndrome: clinical features, pathophysiology, and treatment
Tourette syndrome is a chronic neurodevelopmental disorder characterised by motor and
phonic tics that can substantially diminish the quality of life of affected individuals. Evaluating …
phonic tics that can substantially diminish the quality of life of affected individuals. Evaluating …
European clinical guidelines for Tourette syndrome and other tic disorders—version 2.0. Part I: assessment
In 2011 a working group of the European Society for the Study of Tourette Syndrome
(ESSTS) has developed the first European assessment guidelines for Tourette syndrome …
(ESSTS) has developed the first European assessment guidelines for Tourette syndrome …
Physiological roles of mammalian transmembrane adenylyl cyclase isoforms
KF Ostrom, JE LaVigne, TF Brust… - Physiological …, 2022 - journals.physiology.org
Adenylyl cyclases (ACs) catalyze the conversion of ATP to the ubiquitous second
messenger cAMP. Mammals possess nine isoforms of transmembrane ACs, dubbed AC1–9 …
messenger cAMP. Mammals possess nine isoforms of transmembrane ACs, dubbed AC1–9 …