Detalhe da pesquisa
1.
Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes.
Cell
; 185(20): 3689-3704.e21, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36179666
2.
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease.
Cell
; 181(5): 1062-1079.e30, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386547
3.
Single-cell, whole-embryo phenotyping of mammalian developmental disorders.
Nature
; 623(7988): 772-781, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968388
4.
The single-cell transcriptional landscape of mammalian organogenesis.
Nature
; 566(7745): 496-502, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30787437
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.
Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice.
Proc Natl Acad Sci U S A
; 115(51): 13021-13026, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30487221
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.
Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.
PLoS Genet
; 13(1): e1006567, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28103242
9.
Saturation analysis of ChIP-seq data for reproducible identification of binding peaks.
Genome Res
; 25(9): 1391-400, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26163319
10.
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.
Genome Res
; 23(12): 2091-102, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23995701
11.
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
Am J Med Genet A
; 170(3): 615-21, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581570
12.
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
Am J Hum Genet
; 91(4): 629-35, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022097
13.
When 3D genome changes cause disease: the impact of structural variations in congenital disease and cancer.
Curr Opin Genet Dev
; 80: 102048, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37156210
14.
Three-dimensional chromatin in disease: What holds us together and what drives us apart?
Curr Opin Cell Biol
; 64: 1-9, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32036200
15.
The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization.
Curr Opin Genet Dev
; 61: 1-8, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32199341
16.
Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation.
Nat Genet
; 56(4): 558-560, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38528242
17.
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture.
Nat Genet
; 51(8): 1263-1271, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358994
18.
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
19.
Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development.
Nat Commun
; 8(1): 1218, 2017 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29084951
20.
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice.
Cell Rep
; 10(5): 833-839, 2015 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25660031