Search details
1.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Cell
; 180(3): 568-584.e23, 2020 02 06.
Article
in English
| MEDLINE | ID: mdl-31981491
2.
Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in SLC6A3.
Proc Natl Acad Sci U S A
; 116(9): 3853-3862, 2019 02 26.
Article
in English
| MEDLINE | ID: mdl-30755521
3.
A phenome-wide association study of polygenic scores for attention deficit hyperactivity disorder across two genetic ancestries in electronic health record data.
Am J Med Genet B Neuropsychiatr Genet
; 189(6): 185-195, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35841203
4.
An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder.
Int J Mol Sci
; 21(23)2020 Nov 27.
Article
in English
| MEDLINE | ID: mdl-33261099
5.
A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.
J Neurosci
; 37(8): 2216-2233, 2017 02 22.
Article
in English
| MEDLINE | ID: mdl-28130356
6.
The Gain-of-Function Integrin ß3 Pro33 Variant Alters the Serotonin System in the Mouse Brain.
J Neurosci
; 37(46): 11271-11284, 2017 11 15.
Article
in English
| MEDLINE | ID: mdl-29038237
7.
Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.
Bioinformatics
; 31(2): 187-93, 2015 Jan 15.
Article
in English
| MEDLINE | ID: mdl-25270638
8.
A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.
Bioinformatics
; 31(9): 1452-9, 2015 May 01.
Article
in English
| MEDLINE | ID: mdl-25568282
9.
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
PLoS Genet
; 9(8): e1003671, 2013.
Article
in English
| MEDLINE | ID: mdl-23966865
10.
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
PLoS Genet
; 9(4): e1003443, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23593035
11.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nat Genet
; 39(3): 319-28, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17322880
12.
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Hum Genet
; 134(2): 191-201, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25432440
13.
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.
Am J Med Genet A
; 167A(4): 715-23, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25655306
14.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Nature
; 459(7246): 528-33, 2009 May 28.
Article
in English
| MEDLINE | ID: mdl-19404256
15.
Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior.
Proc Natl Acad Sci U S A
; 109(14): 5469-74, 2012 Apr 03.
Article
in English
| MEDLINE | ID: mdl-22431635
16.
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Proc Natl Acad Sci U S A
; 109(21): 7974-81, 2012 May 22.
Article
in English
| MEDLINE | ID: mdl-22566635
17.
Pro32Pro33 mutations in the integrin ß3 PSI domain result in αIIbß3 priming and enhanced adhesion: reversal of the hypercoagulability phenotype by the Src inhibitor SKI-606.
Mol Pharmacol
; 85(6): 921-31, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24695082
18.
Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.
Genomics
; 102(4): 270-7, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23743231
19.
Long COVID-19 and Peripheral Serotonin: A Commentary and Reconsideration.
J Inflamm Res
; 17: 2169-2172, 2024.
Article
in English
| MEDLINE | ID: mdl-38628604
20.
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Hum Mol Genet
; 20(22): 4360-70, 2011 Nov 15.
Article
in English
| MEDLINE | ID: mdl-21865298