Detalles de la búsqueda
1.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med
; 26(3): 101050, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38126281
2.
A Rational Approach to JAK2 Mutation Testing in Patients with Elevated Hemoglobin: Results from the JAK2 Prediction Cohort (JAKPOT) Study.
J Gen Intern Med
; 38(8): 1828-1833, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36451015
3.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35163737
4.
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
5.
Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population.
Am J Med Genet A
; 185(2): 486-499, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33300680
6.
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
7.
The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.
Am J Med Genet A
; 179(3): 480-485, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30690882
8.
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
Ann Hum Genet
; 82(5): 309-317, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29774539
9.
Serum erythropoietin levels in 696 patients investigated for erythrocytosis with JAK2 mutation analysis.
Am J Hematol
; 97(4): E150-E153, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35045195
10.
An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis.
Adv Hematol
; 2024: 3056216, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38375212
11.
Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review.
Curr Oncol
; 31(4): 1762-1773, 2024 03 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38668037
12.
Clinical Features and Long-Term Outcomes of a Pan-Canadian Cohort of Adolescents and Young Adults with Myeloproliferative Neoplasms: A Canadian MPN Group Study.
Leukemia
; 38(3): 570-578, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38321107
13.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
HGG Adv
; 5(3): 100287, 2024 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38553851
14.
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
J Mol Med (Berl)
; 101(8): 1029-1040, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37466676
15.
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.
Eur J Hum Genet
; 31(8): 879-886, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36797465
16.
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Front Oncol
; 13: 1208244, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37483495
17.
Clinical Utility of Implementing a Frontline NGS-Based DNA and RNA Fusion Panel Test for Patients with Suspected Myeloid Malignancies.
Mol Diagn Ther
; 26(3): 333-343, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35381971
18.
Secondary causes of elevated hemoglobin in patients undergoing molecular testing for suspected polycythemia vera in southwestern Ontario: a chart review.
CMAJ Open
; 10(4): E988-E992, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36347562
19.
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Curr Oncol
; 29(10): 7209-7217, 2022 09 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36290845
20.
Reducing cytogenetic testing in the era of next generation sequencing: Are we choosing wisely?
Int J Lab Hematol
; 44(2): 333-341, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34713980