Detalhe da pesquisa
1.
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Cell
; 172(5): 897-909.e21, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474918
2.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 109(10): 1789-1813, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152629
3.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 111(3): 619, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458168
4.
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
Am J Med Genet A
; 173(9): 2478-2484, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28691782
5.
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
Proc Natl Acad Sci U S A
; 111(42): E4468-77, 2014 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25294932
6.
Investigative needle core biopsies for multi-omics in Glioblastoma.
medRxiv
; 2023 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234840
7.
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
J Genet Genomics
; 49(7): 654-665, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34896608
8.
SPRI Beads-based Size Selection in the Range of 2-10kb.
J Biomol Tech
; 31(1): 7-10, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31920466
9.
High-throughput Minitaturized RNA-Seq Library Preparation.
J Biomol Tech
; 31(4): 151-156, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33100919
10.
Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice.
Elife
; 92020 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990597
11.
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
Mol Autism
; 11(1): 45, 2020 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32503625
12.
WNT/ß-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.
Mol Neuropsychiatry
; 3(1): 53-71, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28879201
13.
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Genome Biol
; 18(1): 36, 2017 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28260531
14.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet
; 49(2): 238-248, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28067909
15.
Overexpression of DNA-binding protein B gene product in breast cancer as detected by in vitro-generated combinatorial human immunoglobulin libraries.
Cancer Res
; 62(17): 4985-91, 2002 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12208750
16.
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.
Nat Neurosci
; 19(3): 517-22, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26829649
17.
Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9.
Cell Stem Cell
; 15(5): 643-52, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25517468
18.
Human RECQ1 interacts with Ku70/80 and modulates DNA end-joining of double-strand breaks.
PLoS One
; 8(5): e62481, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23650516
19.
RECQ1 plays a distinct role in cellular response to oxidative DNA damage.
DNA Repair (Amst)
; 11(6): 537-49, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22542292
20.
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet
; 49(6): 969, 2017 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546579