Detalhe da pesquisa
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521361
2.
Heritable genotype contrast mining reveals novel gene associations specific to autism subgroups.
J Biomed Inform
; 77: 50-61, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29197649
3.
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
Hum Mol Genet
; 24(17): 4848-61, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26056227
4.
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
Proc Natl Acad Sci U S A
; 111(42): E4468-77, 2014 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25294932
5.
rPLR: an imaging system for measuring pupillary light reflex at a distance.
Appl Opt
; 53(32): 7787-95, 2014 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25403005
6.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495017
7.
Brief Report: A Preliminary Study of the Relationship between Repetitive Behaviors and Concurrent Executive Function Demands in Children with Autism Spectrum Disorder.
J Autism Dev Disord
; 52(4): 1896-1902, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34009548
8.
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Nat Commun
; 13(1): 6463, 2022 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36309498
9.
Autism spectrum disorders--a genetics review.
Genet Med
; 13(4): 278-94, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21358411
10.
Detecting corpus callosum abnormalities in autism based on anatomical landmarks.
Psychiatry Res
; 183(2): 126-32, 2010 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20620032
11.
Complex Autism Spectrum Disorders and Cutting-Edge Molecular Diagnostic Tests.
JAMA
; 314(9): 879-80, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26325555
12.
A longitudinal study of pupillary light reflex in 6- to 24-month children.
Sci Rep
; 10(1): 1205, 2020 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31988320
13.
Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients.
Neuropsychiatr Dis Treat
; 15: 2723-2741, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31571888
14.
Development and validation of a measure of dysmorphology: useful for autism subgroup classification.
Am J Med Genet A
; 146A(9): 1101-16, 2008 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18383511
15.
Defining autism subgroups: a taxometric solution.
J Autism Dev Disord
; 38(5): 950-60, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17985224
16.
Atypical pupillary light reflex in 2-6-year-old children with autism spectrum disorders.
Autism Res
; 10(5): 829-838, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28188684
17.
Catatonia in Down syndrome; a treatable cause of regression.
Neuropsychiatr Dis Treat
; 11: 941-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25897230
18.
Facial structure analysis separates autism spectrum disorders into meaningful clinical subgroups.
J Autism Dev Disord
; 45(5): 1302-17, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351828
19.
Autism families with a high incidence of alcoholism.
J Autism Dev Disord
; 33(4): 403-15, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12959419
20.
19q13.32 microdeletion syndrome: three new cases.
Eur J Med Genet
; 57(11-12): 654-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25230004