Author
Autism SpeaksORCID 0000-0002-6951-2667Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Aaron D. Besterman, Gerhard Hellemann, Irma Gutierrez-Mejia…·Julián A. Martínez-Agosto
The paper compares neurobehavioral profiles of Smith-Kingsmore Syndrome and PTEN Hamartoma Tumor Syndrome, identifying distinct features and diagnostic markers.
Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan…·Evdokia A. Anagnostou
This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.
Livia Oliveira Loureiro, Jennifer Howe, Miriam S. Reuter…·Stephen W. Scherer
The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.