Detalhe da pesquisa
1.
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Hum Mol Genet
; 32(22): 3123-3134, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166351
2.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
3.
Spatial control of nucleoporin condensation by fragile X-related proteins.
EMBO J
; 39(20): e104467, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706158
4.
The contribution of copy number variants to psychiatric symptoms and cognitive ability.
Mol Psychiatry
; 28(4): 1480-1493, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737482
5.
Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions.
Brain
; 146(4): 1686-1696, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36059063
6.
Insufficient Evidence for "Autism-Specific" Genes.
Am J Hum Genet
; 106(5): 587-595, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359473
7.
Rare copy number variation in posttraumatic stress disorder.
Mol Psychiatry
; 27(12): 5062-5069, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36131047
8.
Neurodevelopmental disorders (NDD) without boundaries: research and interventions beyond classifications.
J Neural Transm (Vienna)
; 130(3): 473-479, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719463
9.
Conditional canonical correlation estimation based on covariates with random forests.
Bioinformatics
; 37(17): 2714-2721, 2021 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693547
10.
Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Mol Psychiatry
; 26(6): 2663-2676, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414497
11.
Dissecting autism and schizophrenia through neuroimaging genomics.
Brain
; 144(7): 1943-1957, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704401
12.
Estimating the effects of copy-number variants on intelligence using hierarchical Bayesian models.
Genet Epidemiol
; 44(8): 825-840, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783248
13.
Reduced Cognitive Assessment Scores Among Individuals With Magnetic Resonance Imaging-Detected Vascular Brain Injury.
Stroke
; 51(4): 1158-1165, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32126938
14.
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
Hum Mol Genet
; 27(12): 2039-2051, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29590342
15.
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
16.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710489
17.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
J Med Genet
; 56(10): 701-710, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31451536
18.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
19.
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
20.
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