Detalhe da pesquisa
1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37924259
2.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36353900
3.
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Hum Mutat
; 43(6): 800-811, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35181971
4.
Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation.
Hum Mol Genet
; 24(6): 1528-39, 2015 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25381334
5.
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Hum Mutat
; 35(1): 58-62, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24130152
6.
The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.
Res Sq
; 2023 Jun 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37461679
7.
Profiling placental DNA methylation associated with maternal SSRI treatment during pregnancy.
Sci Rep
; 12(1): 22576, 2022 12 30.
Artigo
Inglês
| MEDLINE | ID: mdl-36585414
8.
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
CMAJ Open
; 10(2): E460-E465, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35609929
9.
Profiling the small non-coding RNA transcriptome of the human placenta.
Sci Data
; 8(1): 166, 2021 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34215751
10.
Human placental piwi-interacting RNA transcriptome is characterized by expression from the DLK1-DIO3 imprinted region.
Sci Rep
; 11(1): 14981, 2021 07 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34294738
11.
Illuminating potential technical artifacts of DNA-methylation array probes.
Am J Hum Genet
; 91(4): 760-2, 2012 Oct 05.
Artigo
Inglês
| MEDLINE | ID: mdl-23040498
12.
Accurate ethnicity prediction from placental DNA methylation data.
Epigenetics Chromatin
; 12(1): 51, 2019 08 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31399127
13.
No evidence for association of MTHFR 677C>T and 1298A>C variants with placental DNA methylation.
Clin Epigenetics
; 10: 34, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29564022
14.
DNA methylation profiling of acute chorioamnionitis-associated placentas and fetal membranes: insights into epigenetic variation in spontaneous preterm births.
Epigenetics Chromatin
; 11(1): 63, 2018 10 29.
Artigo
Inglês
| MEDLINE | ID: mdl-30373633
15.
Profiling placental and fetal DNA methylation in human neural tube defects.
Epigenetics Chromatin
; 9: 6, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26889207
16.
The human placental methylome.
Cold Spring Harb Perspect Med
; 5(5): a023044, 2015 Feb 26.
Artigo
Inglês
| MEDLINE | ID: mdl-25722473
17.
Nucleated red blood cells impact DNA methylation and expression analyses of cord blood hematopoietic cells.
Clin Epigenetics
; 7: 95, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26366232
18.
Improved reporting of DNA methylation data derived from studies of the human placenta.
Epigenetics
; 9(3): 333-7, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24394602
19.
Different measures of "genome-wide" DNA methylation exhibit unique properties in placental and somatic tissues.
Epigenetics
; 7(6): 652-63, 2012 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22531475
20.
Response to: "Response to Different measures of 'genome-wide' DNA methylation exhibit unique properties in placental and somatic tissues.
Epigenetics
; 7(8): 965, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22864533