Detalhe da pesquisa
1.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
2.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
3.
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
J Neurodev Disord
; 16(1): 15, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622540
4.
Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes.
J Autism Dev Disord
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38809474
5.
Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.
Autism Res
; 16(8): 1488-1500, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37497568
6.
Rhythmic attentional sampling in autism.
Autism Res
; 16(11): 2090-2099, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37676241
7.
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
J Autism Dev Disord
; 2023 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37031308
8.
Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice.
Biol Psychiatry
; 94(10): 769-779, 2023 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36924980
9.
Family Empowerment: Predicting Service Utilization for Children with Autism Spectrum Disorder.
J Autism Dev Disord
; 52(11): 4986-4993, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800228
10.
GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
J Clin Invest
; 132(19)2022 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917186
11.
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Sci Adv
; 8(33): eabo7112, 2022 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35977029
12.
Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations.
J Autism Dev Disord
; 51(9): 3365-3373, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33175317
13.
The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.
Sci Adv
; 7(23)2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34088660
14.
Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder.
Autism Res
; 13(10): 1659-1669, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32918531
15.
Co-occurring medical conditions among individuals with ASD-associated disruptive mutations.
Child Health Care
; 49(4): 361-384, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33727758