Detalhe da pesquisa
1.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Cell
; 161(5): 1012-1025, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25959774
2.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568816
3.
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Am J Hum Genet
; 108(9): 1725-1734, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34433009
4.
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Am J Hum Genet
; 106(6): 872-884, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470376
5.
Formation of new chromatin domains determines pathogenicity of genomic duplications.
Nature
; 538(7624): 265-269, 2016 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27706140
6.
Preformed chromatin topology assists transcriptional robustness of Shh during limb development.
Proc Natl Acad Sci U S A
; 116(25): 12390-12399, 2019 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147463
7.
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding.
Genome Res
; 27(2): 223-233, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923844
8.
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.
Bioinformatics
; 33(1): 72-78, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27565584
9.
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Am J Hum Genet
; 95(6): 763-70, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480037
10.
Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish.
Development
; 140(24): 4982-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24257628
11.
Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.
Bioinformatics
; 31(22): 3577-83, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26249812
12.
Non-invasive spectroscopic determination of the antioxidative status of gravidae and neonates.
Skin Pharmacol Physiol
; 28(4): 189-95, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612614
13.
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.
Nucleic Acids Res
; 40(6): 2426-31, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22127862
14.
Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma.
Nat Commun
; 11(1): 5823, 2020 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199677
15.
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality.
Science
; 370(6513): 208-214, 2020 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33033216
16.
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations.
Nat Cell Biol
; 21(3): 305-310, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30742094
17.
CRUP: a comprehensive framework to predict condition-specific regulatory units.
Genome Biol
; 20(1): 227, 2019 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31699133
18.
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis.
Nat Genet
; 50(10): 1463-1473, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30262816
19.
Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).
Nat Genet
; 49(10): 1539-1545, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28846100
20.
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
Eur J Hum Genet
; 23(6): 870-3, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25293717