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.
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
Hum Mol Genet
; 24(9): 2442-57, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574027
5.
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
6.
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
7.
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
8.
The importance of space, time, and stochasticity to the demography and management of Alliaria petiolata.
Ecol Appl
; 22(5): 1497-511, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22908709
9.
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
10.
How do consumers deal with stoichiometric constraints? Lessons from functional genomics using Daphnia pulex.
Mol Ecol
; 20(11): 2341-52, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21521393
11.
COBRE for Computational Biology of Human Disease at Brown University: Progress and Prospects.
R I Med J (2013)
; 104(2): 54-59, 2021 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33648321
12.
Protein Network Analysis of Whole Exome Sequencing of Severe Preeclampsia.
Front Genet
; 12: 765985, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35719905
13.
Single-cell transcriptomics reveals lasting changes in the lung cellular landscape into adulthood after neonatal hyperoxic exposure.
Redox Biol
; 48: 102091, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417156
14.
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Nat Commun
; 12(1): 3332, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34099697
15.
VarStack: a web tool for data retrieval to interpret somatic variants in cancer.
Database (Oxford)
; 20202020 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247936
16.
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
17.
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
18.
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
19.
Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing.
Cell Stem Cell
; 15(1): 27-30, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24996167
20.
Generation of a multi-locus chicken introgression line to study the effects of genetic interactions on metabolic phenotypes in chickens.
Front Genet
; 3: 29, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22403584