D. Ledbetter's guest appearances

D. Ledbetter

Dukes & Bell

Petty Sportz Podcast

PubReading

LeBron James

Sam Darnold

Nick Saban

Baker Mayfield

Joel Embiid

Jimmy G

Richard Sherman

Canelo Alvarez

Tim Tebow

Julian Edelman

Mike Vick

Sean Payton

Vanessa Bryant

Jonathan Taylor

Jimbo Fisher

OwlTail

S. Myers

Despite evidence that deleterious variants in the same genes are implicated across multiple neurodevelopmental and neuropsychiatric disorders, there has been considerable interest in identifying genes that, when mutated, confer risk that is largely specific for autism spectrum disorder (ASD). Here, we review the findings and limitations of recent efforts to identify relatively ‘‘autism-specific’’ genes, efforts which focus on rare variants of large effect size that are thought to account for the observed phenotypes. We present a divergent interpretation of published evidence; discuss practical and theoretical issues related to studying the relationships between rare, large-effect deleterious variants and neurodevelopmental phenotypes; and describe potential future directions of this research. We argue that there is currently insufficient evidence to establish meaningful ASD specificity of any genes based on large-effect rare-variant data. - doi.org/10.1016/j.ajhg.2020.04.004 - 2020

Despite evidence that deleterious variants in the same genes are implicated across multiple neurodevelopmental and neuropsychiatric disorders, there has been considerable interest in identifying genes that, when mutated, confer risk that is largely specific for autism spectrum disorder (ASD). Here, we review the findings and limitations of recent efforts to identify relatively ‘‘autism-specific’’ genes, efforts which focus on rare variants of large effect size that are thought to account for the observed phenotypes. We present a divergent interpretation of published evidence; discuss practical and theoretical issues related to studying the relationships between rare, large-effect deleterious variants and neurodevelopmental phenotypes; and describe potential future directions of this research. We argue that there is currently insufficient evidence to establish meaningful ASD specificity of any genes based on large-effect rare-variant data. - <a href="http://doi.org/10.1016/j.ajhg.2020.04.004" rel="nofollow" target="_blank">doi.org/10.1016/j.ajhg.2020.04.004</a> - 2020

PubReading [127] - Insufficient Evidence for ‘‘Autism-Specific’’ Genes - S. Myers, D. Ledbetter