Detalhe da pesquisa
1.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet
; 59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34656997
2.
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Am J Hum Genet
; 105(5): 996-1004, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587869
3.
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Mol Psychiatry
; 26(9): 5239-5250, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483695
4.
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
J Hum Genet
; 66(8): 761-768, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597727
5.
Maternal Overweight and Obesity during Pregnancy Are Associated with Neonatal, but Not Maternal, Hepcidin Concentrations.
J Nutr
; 151(8): 2296-2304, 2021 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33979838
6.
Review and Consensus on Pharmacogenomic Testing in Psychiatry.
Pharmacopsychiatry
; 54(1): 5-17, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33147643
7.
ß-Arrestin 2 (ARRB2) Polymorphism is Associated With Adverse Consequences of Chronic Heroin Use.
Am J Addict
; 30(4): 351-357, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783060
8.
BaiHui: cross-species brain-specific network built with hundreds of hand-curated datasets.
Bioinformatics
; 35(14): 2486-2488, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30521009
9.
Heroin delay discounting and impulsivity: Modulation by DRD1 genetic variation.
Addict Biol
; 25(3): e12777, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192519
10.
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Hum Mol Genet
; 26(23): 4556-4571, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973407
11.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Genet Med
; 21(1): 195-206, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915382
12.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Ann Neurol
; 83(6): 1075-1088, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604224
13.
The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.
Brain
; 145(12): e122-e124, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083980
14.
Oxytocin Genotype Moderates the Impact of Social Support on Psychiatric Distress in Alcohol-Dependent Patients.
Alcohol Alcohol
; 53(1): 57-63, 2018 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040351
15.
Pathways to Youth Behavior: The Role of Genetic, Neural, and Behavioral Markers.
J Res Adolesc
; 28(1): 26-39, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460350
16.
Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Mol Psychiatry
; 26(9): 5251, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674754
17.
Beyond risk: Prospective effects of GABA Receptor Subunit Alpha-2 (GABRA2) × Positive Peer Involvement on adolescent behavior.
Dev Psychopathol
; 29(3): 711-724, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27581089
18.
Susceptibility effects of GABA receptor subunit alpha-2 (GABRA2) variants and parental monitoring on externalizing behavior trajectories: Risk and protection conveyed by the minor allele.
Dev Psychopathol
; 28(1): 15-26, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25797587
19.
Indirect effect of corticotropin-releasing hormone receptor 1 gene variation on negative emotionality and alcohol use via right ventrolateral prefrontal cortex.
J Neurosci
; 34(11): 4099-107, 2014 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24623788
20.
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
Am J Hum Genet
; 91(2): 365-71, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22818856