Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929737
2.
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.
J Med Genet
; 58(4): 284-288, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376792
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304373
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483276
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268616
6.
International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation.
Br J Cancer
; 121(1): 15-21, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30971774
7.
Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 175(2): 443-449, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30756284
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177553
9.
Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 171(2): 421-426, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29774471
10.
Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation.
Gynecol Oncol
; 150(1): 85-91, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29793803
11.
Genetics Consultation Rates Following a Diagnosis of High-Grade Serous Ovarian Carcinoma in the Canadian Province of Ontario.
Int J Gynecol Cancer
; 27(3): 437-443, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28072594
12.
DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome.
Crit Rev Clin Lab Sci
; 53(3): 147-65, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26758403
13.
Gender and BCR-ABL transcript type are correlated with molecular response to imatinib treatment in patients with chronic myeloid leukemia.
Eur J Haematol
; 96(4): 360-6, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26059983
14.
Prospective evaluation of alcohol consumption and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 151(2): 435-41, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25935583
15.
Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 146(2): 421-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951267
16.
The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation.
Breast Cancer Res Treat
; 142(1): 177-85, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136669
17.
International rates of breast reconstruction after prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers.
Ann Surg Oncol
; 20(12): 3817-22, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740344
18.
Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 14(2): R42, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22405187
19.
The impact of population-based screening studies on hemochromatosis screening practices.
Dig Dis Sci
; 57(5): 1420-2, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22160492
20.
Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario.
Can Fam Physician
; 58(5): e258-66, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22734169