Detalhe da pesquisa
1.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Am J Hum Genet
; 104(6): 1073-1087, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079899
2.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Am J Hum Genet
; 105(5): 907-920, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607425
3.
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Hum Mol Genet
; 28(6): 972-979, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481285
4.
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Am J Hum Genet
; 103(4): 568-578, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290152
5.
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.
Proc Natl Acad Sci U S A
; 115(51): 13015-13020, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30510006
6.
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
Hum Mol Genet
; 27(15): 2703-2711, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29771303
7.
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.
Am J Hum Genet
; 100(3): 444-453, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190458
8.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 508(7496): 345-50, 2014 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24740065
9.
Biased allelic expression in human primary fibroblast single cells.
Am J Hum Genet
; 96(1): 70-80, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557783
10.
Landscape of transcription in human cells.
Nature
; 489(7414): 101-8, 2012 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22955620
11.
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.
PLoS Genet
; 11(1): e1004958, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25634236
12.
Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 531(7594): 400, 2016 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633627
13.
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Genome Res
; 23(9): 1410-21, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23783273
14.
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.
Blood
; 122(4): 554-61, 2013 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23733339
15.
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Genome Res
; 21(1): 68-73, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21147911
16.
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.
Hum Mutat
; 33(3): 495-503, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22102620
17.
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
Nat Commun
; 10(1): 4495, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31582743
18.
DNAI1 mutations explain only 2% of primary ciliary dykinesia.
Respiration
; 76(2): 198-204, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18434704
19.
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome.
Elife
; 62017 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28869038
20.
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells.
PLoS One
; 10(5): e0126475, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25955728