Detalhe da pesquisa
1.
The bone microenvironment invigorates metastatic seeds for further dissemination.
Cell
; 184(9): 2471-2486.e20, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33878291
2.
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels.
Genes Dev
; 37(19-20): 883-900, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37890975
3.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Cell
; 159(1): 200-214, 2014 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25259927
4.
A cross-species proteomic map reveals neoteny of human synapse development.
Nature
; 622(7981): 112-119, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704727
5.
miR760 regulates ATXN1 levels via interaction with its 5' untranslated region.
Genes Dev
; 34(17-18): 1147-1160, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32763910
6.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593811
7.
Literature-based predictions of Mendelian disease therapies.
Am J Hum Genet
; 110(10): 1661-1672, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741276
8.
Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1.
EMBO J
; 40(7): e106106, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709453
9.
CoRegNet: unraveling gene co-regulation networks from public RNA-Seq repositories using a beta-binomial statistical model.
Brief Bioinform
; 25(1)2023 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113079
10.
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.
Proc Natl Acad Sci U S A
; 119(4)2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074918
11.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
12.
Unravelling spatial gene associations with SEAGAL: a Python package for spatial transcriptomics data analysis and visualization.
Bioinformatics
; 39(7)2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37436699
13.
SPA-STOCSY: an automated tool for identifying annotated and non-annotated metabolites in high-throughput NMR spectra.
Bioinformatics
; 39(10)2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37792497
14.
Single-cell multi-omics integration for unpaired data by a siamese network with graph-based contrastive loss.
BMC Bioinformatics
; 24(1): 5, 2023 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600199
15.
Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders.
Genome Res
; 30(6): 835-848, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554779
16.
A Comprehensive and Integrative Approach to MeCP2 Disease Transcriptomics.
Int J Mol Sci
; 24(6)2023 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982190
17.
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
Hum Mutat
; 43(6): 743-759, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224820
18.
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
Hum Mol Genet
; 29(5): 705-715, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600777
19.
Beta-binomial modeling of CRISPR pooled screen data identifies target genes with greater sensitivity and fewer false negatives.
Genome Res
; 29(6): 999-1008, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015259
20.
PolyA-miner: accurate assessment of differential alternative poly-adenylation from 3'Seq data using vector projections and non-negative matrix factorization.
Nucleic Acids Res
; 48(12): e69, 2020 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32463457