Detalhe da pesquisa
1.
Cross-sectional and longitudinal neuroanatomical profiles of distinct clinical (adaptive) outcomes in autism.
Mol Psychiatry
; 28(5): 2158-2169, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36991132
2.
Operative list of genes associated with autism and neurodevelopmental disorders based on database review.
Mol Cell Neurosci
; 113: 103623, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33932580
3.
Oligogenicity, C9orf72 expansion, and variant severity in ALS.
Neurogenetics
; 21(3): 227-242, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385536
4.
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Mov Disord
; 34(4): 526-535, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788890
5.
Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.
Mov Disord
; 33(6): 1016-1020, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29756641
6.
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.
Nature
; 486(7402): 256-60, 2012 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22699619
7.
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
Hum Mol Genet
; 24(5): 1363-73, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25343993
8.
Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.
Mov Disord
; 32(2): 292-295, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158909
9.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
10.
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Am J Hum Genet
; 90(5): 879-87, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22503632
11.
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet
; 16: 41, 2015 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26104215
12.
11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.
Am J Med Genet A
; 167A(12): 3019-30, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334118
13.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
J Med Genet
; 51(6): 419-24, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706941
14.
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
PLoS Genet
; 8(2): e1002521, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22346768
15.
Heterozygous FA2H mutations in autism spectrum disorders.
BMC Med Genet
; 14: 124, 2013 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24299421
16.
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Eur J Med Genet
; 66(5): 104732, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36822569
17.
Phenotypic effects of genetic variants associated with autism.
Nat Med
; 29(7): 1671-1680, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365347
18.
Genetic correlates of phenotypic heterogeneity in autism.
Nat Genet
; 54(9): 1293-1304, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35654973
19.
Stratifying the autistic phenotype using electrophysiological indices of social perception.
Sci Transl Med
; 14(658): eabf8987, 2022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35976994
20.
Neurobiological Correlates of Change in Adaptive Behavior in Autism.
Am J Psychiatry
; 179(5): 336-349, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331004