Detalhe da pesquisa
1.
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Hum Mol Genet
; 32(15): 2411-2421, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154571
2.
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
J Med Genet
; 60(12): 1153-1160, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37290907
3.
Region-Specific KCC2 Rescue by rhIGF-1 and Oxytocin in a Mouse Model of Rett Syndrome.
Cereb Cortex
; 32(13): 2885-2894, 2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791112
4.
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.
Neurogenetics
; 23(2): 137-149, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325322
5.
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Hum Genomics
; 15(1): 68, 2021 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34802461
6.
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Am J Hum Genet
; 102(2): 278-295, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395074
7.
Seeing the forest and the trees: Disentangling autism phenotypes in the age of DSM-5.
Dev Psychopathol
; 33(2): 625-633, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33719986
8.
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Am J Med Genet B Neuropsychiatr Genet
; 183(5): 268-276, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32372567
9.
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
BMC Med Genet
; 20(1): 150, 2019 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477031
10.
Progress in the genetics of autism spectrum disorder.
Dev Med Child Neurol
; 60(5): 445-451, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574884
11.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381304
12.
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Hum Genet
; 134(2): 191-201, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25432440
13.
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
JAMA
; 314(9): 895-903, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26325558
14.
Common pitfalls, and how to avoid them, in child and adolescent psychopharmacology: Part II.
J Psychopharmacol
; 38(4): 318-323, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38494873
15.
Common pitfalls, and how to avoid them, in child and adolescent psychopharmacology: Part I.
J Psychopharmacol
; 38(4): 311-317, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38494948
16.
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
Genes Brain Behav
; 23(1): e12882, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38359179
17.
Common practical questions - and answers - at the British Association for Psychopharmacology child and adolescent psychopharmacology course.
J Psychopharmacol
; 37(2): 119-134, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36476096
18.
Lack of ethnic diversity in single-cell transcriptomics hinders cell type detection and precision medicine inclusivity.
Med
; 4(4): 217-219, 2023 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37060896
19.
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.
Sci Rep
; 13(1): 21547, 2023 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38057384
20.
Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability.
Am J Med Genet B Neuropsychiatr Genet
; 159B(1): 5-12, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22095612