Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981491
2.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet
; 21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317787
3.
Adaptive functioning and academic achievement in pediatric survivors of acute lymphoblastic leukemia: Associations with executive functioning, socioeconomic status, and academic support.
Eur J Haematol
; 112(2): 266-275, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798080
4.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183358
5.
Loss of δ-catenin function in severe autism.
Nature
; 520(7545): 51-6, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25807484
6.
Convergent Validity of In-Person Assessment of Inpatients With Traumatic Brain Injury Using the Brief Test of Adult Cognition by Telephone (BTACT).
J Head Trauma Rehabil
; 36(4): E226-E232, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33656489
7.
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.
Am J Med Genet A
; 182(1): 213-218, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729143
8.
Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.
Am J Med Genet A
; 182(1): 71-84, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31654560
9.
Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.
J Hum Genet
; 64(3): 253-255, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30542208
10.
Cognitive mechanisms of inhibitory control deficits in autism spectrum disorder.
J Child Psychol Psychiatry
; 59(5): 586-595, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29052841
11.
STAMS: STRING-assisted module search for genome wide association studies and application to autism.
Bioinformatics
; 32(24): 3815-3822, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27542772
12.
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.
Am J Med Genet A
; 173(6): 1656-1662, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407363
13.
Feedforward and feedback motor control abnormalities implicate cerebellar dysfunctions in autism spectrum disorder.
J Neurosci
; 35(5): 2015-25, 2015 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25653359
14.
Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver.
Hum Mol Genet
; 23(20): 5558-69, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24879639
15.
Intellectual disability is associated with increased runs of homozygosity in simplex autism.
Am J Hum Genet
; 93(1): 103-9, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830515
16.
Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.
Bioinformatics
; 31(2): 187-93, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25270638
17.
A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.
Bioinformatics
; 31(9): 1452-9, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25568282
18.
Separating Family-Level and Direct Exposure Effects of Smoking During Pregnancy on Offspring Externalizing Symptoms: Bridging the Behavior Genetic and Behavior Teratologic Divide.
Behav Genet
; 46(3): 389-402, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581695
19.
CYP2A6 Longitudinal Effects in Young Smokers.
Nicotine Tob Res
; 18(2): 196-203, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25744963
20.
Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP.
Epilepsy Behav
; 61: 1-5, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27218684