Detalhe da pesquisa
1.
brainlife.io: a decentralized and open-source cloud platform to support neuroscience research.
Nat Methods
; 21(5): 809-813, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605111
2.
Neutrophil-Derived Peptidyl Arginine Deiminase Activity Contributes to Pulmonary Emphysema by Enhancing Elastin Degradation.
J Immunol
; 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38758115
3.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
4.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505148
5.
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Mol Psychiatry
; 28(4): 1527-1544, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36717740
6.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
7.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
8.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987741
9.
Cell type-specific mechanisms of information transfer in data-driven biophysical models of hippocampal CA3 principal neurons.
PLoS Comput Biol
; 18(4): e1010071, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35452457
10.
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Am J Respir Crit Care Med
; 206(12): 1522-1533, 2022 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35852389
11.
Compensatory Cone-Mediated Mechanisms in Inherited Retinal Degeneration Mouse Models: A Functional and Gene Expression Analysis.
Adv Exp Med Biol
; 1415: 347-352, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440055
12.
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Hum Mutat
; 43(7): 963-970, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476365
13.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
14.
Author Correction: brainlife.io: a decentralized and open-source cloud platform to support neuroscience research.
Nat Methods
; 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38714873
15.
Rim lesions are demonstrated in early relapsing-remitting multiple sclerosis using 3 T-based susceptibility-weighted imaging in a multi-institutional setting.
Neuroradiology
; 64(1): 109-117, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664112
16.
Bringing nature into CAMHS inpatient services: reflections for the implementation and integration of training into practice.
Int Rev Psychiatry
; 34(5): 546-552, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36165746
17.
An empirical comparison of the Extended Parallel Process Model with the Terror Management Health Model.
Health Promot Int
; 37(4)2022 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35984337
18.
Trends in Adverse Event Rates in Hospitalized Patients, 2010-2019.
JAMA
; 328(2): 173-183, 2022 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819424
19.
The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.
Pflugers Arch
; 473(9): 1455-1468, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255151
20.
Visual Opsin Diversity in Sharks and Rays.
Mol Biol Evol
; 37(3): 811-827, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31770430