Detalhe da pesquisa
1.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Cell;
180(3): 568-584.e23, 2020 02 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31981491
2.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet;
21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32317787
3.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
PLoS Genet;
18(11): e1010367, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36327219
4.
Postsynaptic Protein Shank3a Deficiency Synergizes with Alzheimer's Disease Neuropathology to Impair Cognitive Performance in the 3xTg-AD Murine Model.
J Neurosci;
43(26): 4941-4954, 2023 06 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37253603
5.
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
Hum Mol Genet;
31(15): 2582-2594, 2022 08 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35271727
6.
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Hum Mol Genet;
31(4): 625-637, 2022 02 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34559195
7.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain;
146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35979925
8.
Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes.
Proc Natl Acad Sci U S A;
118(47)2021 11 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34799441
9.
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Hum Genet;
142(9): 1385-1394, 2023 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37454340
10.
Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data.
Am J Hum Genet;
106(4): 513-524, 2020 04 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32243819
11.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Am J Hum Genet;
107(3): 555-563, 2020 09 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32758449
12.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Genet Med;
25(11): 100922, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37403762
13.
Direct additive genetics and maternal effect contribute to the risk of Tourette disorder.
J Neurol Neurosurg Psychiatry;
94(8): 638-642, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37100590
14.
Maternal rheumatoid arthritis and risk of autism in the offspring.
Psychol Med;
53(15): 7300-7308, 2023 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37092864
15.
Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice.
Brain Behav Immun;
114: 311-324, 2023 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37657643
16.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A;
191(8): 2015-2044, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37392087
17.
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
Mol Ther;
30(7): 2416-2428, 2022 07 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35585789
18.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet;
59(2): 170-179, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33323470
19.
TrackUSF, a novel tool for automated ultrasonic vocalization analysis, reveals modified calls in a rat model of autism.
BMC Biol;
20(1): 159, 2022 07 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35820848
20.
Latin American Trans-ancestry INitiative for OCD genomics (LATINO): Study protocol.
Am J Med Genet B Neuropsychiatr Genet;
: e32962, 2023 Nov 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37946624