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1.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32109418
2.
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Hum Mutat
; 43(11): 1531-1544, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36086952
3.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Hum Mutat
; 43(12): 1837-1843, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35870179
4.
Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.
Hum Mol Genet
; 29(R1): R27-R32, 2020 09 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-32644126
5.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30929737
6.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Mol Genet Metab
; 135(1): 93-101, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34969639
7.
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
Am J Hum Genet
; 102(1): 156-174, 2018 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29304373
8.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(6): 1065-1074, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33547396
9.
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
J Hum Genet
; 66(5): 451-464, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-33093641
10.
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.
Int J Mol Sci
; 22(3)2021 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-33498634
11.
Glucose-induced, duration-dependent genome-wide DNA methylation changes in human endothelial cells.
Am J Physiol Cell Physiol
; 319(2): C268-C276, 2020 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32459505
12.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32694869
13.
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.
J Hum Genet
; 65(10): 865-873, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32483276
14.
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.
Int J Mol Sci
; 21(23)2020 Dec 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33291301
15.
Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
Hum Mutat
; 40(10): 1684-1689, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31268616
16.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34087165
17.
Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.
Eur J Haematol
; 103(3): 178-189, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31177553
18.
Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia.
BMC Med Genet
; 19(1): 205, 2018 11 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30497399
19.
Six-year time-trend analysis of dyslipidemia among adults in Newfoundland and Labrador: findings from the laboratory information system between 2009 and 2014.
Lipids Health Dis
; 17(1): 99, 2018 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29720176
20.
Identification of Dyslipidemic Patients Attending Primary Care Clinics Using Electronic Medical Record (EMR) Data from the Canadian Primary Care Sentinel Surveillance Network (CPCSSN) Database.
J Med Syst
; 41(3): 45, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28188559