Detalhe da pesquisa
1.
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Am J Hum Genet
; 101(4): 564-577, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965845
2.
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.
Neuroimage
; 203: 116155, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494251
3.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Am J Hum Genet
; 96(5): 784-96, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25937446
4.
Copy number variations and cognitive phenotypes in unselected populations.
JAMA
; 313(20): 2044-54, 2015 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26010633
5.
Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.
Transl Psychiatry
; 14(1): 95, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355713
6.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
J Med Genet
; 49(10): 660-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054248
7.
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.
Genes (Basel)
; 14(1)2023 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672911
8.
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.
Nat Hum Behav
; 7(6): 1001-1017, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864136
9.
Subcortical brain alterations in carriers of genomic copy number variants.
medRxiv
; 2023 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865328
10.
Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants.
Am J Psychiatry
; 180(9): 685-698, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37434504
11.
Could Gait Biomechanics Become a Marker of Atypical Neuronal Circuitry in Human Development?-The Example of Autism Spectrum Disorder.
Front Bioeng Biotechnol
; 9: 624522, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33796508
12.
The development of attentional control mechanisms in multisensory environments.
Dev Cogn Neurosci
; 48: 100930, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33561691
13.
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Transl Psychiatry
; 11(1): 105, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33542195
14.
Effects of eight neuropsychiatric copy number variants on human brain structure.
Transl Psychiatry
; 11(1): 399, 2021 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34285187
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.
Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.
Eur J Med Genet
; 63(12): 104093, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33160096
17.
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
18.
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
19.
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Biol Psychiatry
; 84(4): 253-264, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29778275
20.
Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants.
Per Med
; 13(4): 303-314, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749813