Detalhe da pesquisa
1.
Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
Am J Med Genet C Semin Med Genet
; 193(3): e32058, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534867
2.
Phenotypically driven subgroups of ASD display distinct metabolomic profiles.
Brain Behav Immun
; 111: 21-29, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37004757
3.
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.
J Med Genet
; 59(6): 536-543, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34006619
4.
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.
Am J Med Genet A
; 188(7): 1954-1963, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35285131
5.
Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.
Dev Med Child Neurol
; 64(6): 723-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35092695
6.
Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.
J Child Psychol Psychiatry
; 62(11): 1297-1307, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382689
7.
Language characterization in 16p11.2 deletion and duplication syndromes.
Am J Med Genet B Neuropsychiatr Genet
; 183(6): 380-391, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652891
8.
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
Am J Med Genet A
; 170(11): 2943-2955, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27410714
9.
Evidence-based recruitment strategies for clinical research: Study personnel's and research participants' perceptions about successful methods of outreach for a U.S. Autism-Research Cohort.
J Clin Transl Sci
; 8(1): e65, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38690223
10.
Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism.
J Clin Transl Sci
; 8(1): e64, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38655455
11.
Agreement of parent-reported cognitive level with standardized measures among children with autism spectrum disorder.
Autism Res
; 16(6): 1210-1224, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37097835
12.
Imputing cognitive impairment in SPARK, a large autism cohort.
Autism Res
; 15(1): 156-170, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34636158
13.
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.
Neurol Genet
; 8(5): e200018, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36531974
14.
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Transl Psychiatry
; 11(1): 105, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33542195
15.
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.
Am J Psychiatry
; 178(1): 77-86, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33384013
16.
Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort.
J Autism Dev Disord
; 50(10): 3679-3698, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32096123
17.
Psychotic symptoms in 16p11.2 copy-number variant carriers.
Autism Res
; 13(2): 187-198, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31724820
18.
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Autism Res
; 13(8): 1300-1310, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597026
19.
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Transl Psychiatry
; 9(1): 8, 2019 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664628
20.
Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.
Transl Psychiatry
; 9(1): 107, 2019 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30837452