Detalhe da pesquisa
1.
Genetic and functional insights into CDA-I prevalence and pathogenesis.
J Med Genet
; 58(3): 185-195, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32518175
2.
Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.
Haematologica
; 106(11): 2960-2970, 2021 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33121234
3.
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
J Med Genet
; 57(6): 414-421, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32005695
4.
Intragenic enhancers act as alternative promoters.
Mol Cell
; 45(4): 447-58, 2012 Feb 24.
Artigo
Inglês
| MEDLINE | ID: mdl-22264824
5.
Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.
Hum Mol Genet
; 24(12): 3457-71, 2015 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25814655
6.
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
J Med Genet
; 51(11): 737-47, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25228304
7.
Global gene expression analysis of human erythroid progenitors.
Blood
; 117(13): e96-108, 2011 Mar 31.
Artigo
Inglês
| MEDLINE | ID: mdl-21270440
8.
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.
Blood
; 117(25): 6928-38, 2011 Jun 23.
Artigo
Inglês
| MEDLINE | ID: mdl-21364188
9.
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
Haematologica
; 98(9): 1383-7, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23716552
10.
RASER-FISH: non-denaturing fluorescence in situ hybridization for preservation of three-dimensional interphase chromatin structure.
Nat Protoc
; 17(5): 1306-1331, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35379945
11.
Coregulated human globin genes are frequently in spatial proximity when active.
J Cell Biol
; 172(2): 177-87, 2006 Jan 16.
Artigo
Inglês
| MEDLINE | ID: mdl-16418531
12.
High-resolution targeted 3C interrogation of cis-regulatory element organization at genome-wide scale.
Nat Commun
; 12(1): 531, 2021 01 22.
Artigo
Inglês
| MEDLINE | ID: mdl-33483495
13.
Dynamics of the 4D genome during in vivo lineage specification and differentiation.
Nat Commun
; 11(1): 2722, 2020 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32483172
14.
A Dynamic Folded Hairpin Conformation Is Associated with α-Globin Activation in Erythroid Cells.
Cell Rep
; 30(7): 2125-2135.e5, 2020 02 18.
Artigo
Inglês
| MEDLINE | ID: mdl-32075757
15.
Cohesin Disrupts Polycomb-Dependent Chromosome Interactions in Embryonic Stem Cells.
Cell Rep
; 30(3): 820-835.e10, 2020 01 21.
Artigo
Inglês
| MEDLINE | ID: mdl-31968256
16.
Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors.
Methods Protoc
; 1(3)2018 Jul 30.
Artigo
Inglês
| MEDLINE | ID: mdl-31164570
17.
A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions.
Nat Commun
; 9(1): 3849, 2018 09 21.
Artigo
Inglês
| MEDLINE | ID: mdl-30242161
18.
Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains.
Nat Genet
; 50(12): 1744-1751, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30374068
19.
Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models.
Genome Biol
; 17: 59, 2016 Mar 31.
Artigo
Inglês
| MEDLINE | ID: mdl-27036497
20.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Nat Genet
; 47(7): 717-726, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25985138