Detalhe da pesquisa
1.
A multi-stem cell basis for craniosynostosis and calvarial mineralization.
Nature
; 621(7980): 804-812, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37730988
2.
Foxp1 suppresses cortical angiogenesis and attenuates HIF-1alpha signaling to promote neural progenitor cell maintenance.
EMBO Rep
; 25(5): 2202-2219, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600346
3.
PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.
Genes Dev
; 32(11-12): 763-780, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899142
4.
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.
Proc Natl Acad Sci U S A
; 118(51)2021 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916285
5.
Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Ca2+ signaling.
Mol Psychiatry
; 27(5): 2470-2484, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35365802
6.
CIC missense variants contribute to susceptibility for spina bifida.
Hum Mutat
; 43(12): 2021-2032, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054333
7.
Familial colloid cysts: not a chance occurrence.
J Neurooncol
; 157(2): 321-332, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243591
8.
Dominant negative GPR161 rare variants are risk factors of human spina bifida.
Hum Mol Genet
; 28(2): 200-208, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30256984
9.
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.
Genet Med
; 23(7): 1211-1218, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686259
10.
Fostering Academia-Industry Partnerships to Facilitate Therapeutic Discoveries in Neurology: The Role of ANA as a Catalyst.
Ann Neurol
; 95(5): 825-826, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436546
11.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
12.
The search for genetic determinants of human neural tube defects.
Curr Opin Pediatr
; 31(6): 739-746, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31693581
13.
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genet Med
; 20(11): 1354-1364, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671837
14.
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
Ann Neurol
; 81(1): 68-78, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863452
15.
Rare LRP6 variants identified in spina bifida patients.
Hum Mutat
; 36(3): 342-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25546815
16.
LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure.
Hum Mol Genet
; 22(21): 4267-81, 2013 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23773994
17.
Untargeted metabolite profiling of murine embryos to reveal metabolic perturbations associated with neural tube closure defects.
Birth Defects Res A Clin Mol Teratol
; 100(8): 623-32, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25115437
18.
Schizophrenia endothelial cells exhibit higher permeability and altered angiogenesis patterns in patient-derived organoids.
Transl Psychiatry
; 14(1): 53, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263175
19.
Neural tube defects and epigenetics: role of histone post-translational histone modifications.
Epigenomics
; 16(6): 419-426, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410929
20.
Single-cell long-read sequencing-based mapping reveals specialized splicing patterns in developing and adult mouse and human brain.
Nat Neurosci
; 27(6): 1051-1063, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38594596