Detalhe da pesquisa
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521361
2.
FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells.
Hum Mol Genet
; 32(15): 2511-2522, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216650
3.
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).
Hum Mol Genet
; 31(21): 3715-3728, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35640156
4.
Characterization of Stress Granule Protein Turnover in Neuronal Progenitor Cells Using Correlative STED and NanoSIMS Imaging.
Int J Mol Sci
; 24(3)2023 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768868
5.
Human iPSC-derived Down syndrome astrocytes display genome-wide perturbations in gene expression, an altered adhesion profile, and increased cellular dynamics.
Hum Mol Genet
; 29(5): 785-802, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943018
6.
Cocaine-related DNA methylation in caudate neurons alters 3D chromatin structure of the IRXA gene cluster.
Mol Psychiatry
; 26(7): 3134-3151, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046833
7.
Umap and Bismap: quantifying genome and methylome mappability.
Nucleic Acids Res
; 46(20): e120, 2018 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30169659
8.
A Dual Noradrenergic Mechanism for the Relief of Neuropathic Allodynia by the Antidepressant Drugs Duloxetine and Amitriptyline.
J Neurosci
; 38(46): 9934-9954, 2018 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30249798
9.
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genet Med
; 21(5): 1058-1064, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245510
10.
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genet Med
; 21(9): 2159-2160, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643220
11.
Strategies to Advance Drug Discovery in Rare Monogenic Intellectual Disability Syndromes.
Int J Neuropsychopharmacol
; 21(3): 201-206, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040584
12.
Medium throughput bisulfite sequencing for accurate detection of 5-methylcytosine and 5-hydroxymethylcytosine.
BMC Genomics
; 18(1): 96, 2017 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28100169
13.
Molecular convergence of neurodevelopmental disorders.
Am J Hum Genet
; 95(5): 490-508, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25307298
14.
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
Am J Hum Genet
; 94(6): 870-83, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906019
15.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Am J Med Genet A
; 173(2): 395-406, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27759917
16.
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
Am J Med Genet A
; 170A(5): 1225-35, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789910
17.
Characterizing 5-hydroxymethylcytosine in human prefrontal cortex at single base resolution.
BMC Genomics
; 16: 672, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334641
18.
Investigation of genes important in neurodevelopment disorders in adult human brain.
Hum Genet
; 134(10): 1037-53, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26194112
19.
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Am J Hum Genet
; 91(6): 1128-34, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23217328
20.
BisQC: an operational pipeline for multiplexed bisulfite sequencing.
BMC Genomics
; 15: 290, 2014 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-24734894