Search details
1.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
Mol Psychiatry
; 28(4): 1747-1769, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36604605
2.
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
J Med Genet
; 60(6): 523-532, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36822643
3.
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
J Med Genet
; 59(8): 727-736, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35393334
4.
Practice patterns of prenatal and perinatal testing in Canadian cytogenetics laboratories.
Prenat Diagn
; 41(7): 843-854, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33882154
5.
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
J Med Genet
; 56(12): 792-800, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31300550
6.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30190612
7.
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Genet Med
; 20(3): 294-302, 2018 03.
Article
in English
| MEDLINE | ID: mdl-28726806
8.
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Genet Med
; 19(1): 53-61, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27195815
9.
Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.
Am J Med Genet A
; 167A(1): 180-4, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25287655
10.
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.
Mol Genet Genomic Med
; 11(3): e2116, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36461789
11.
Evaluation of DNA Methylation Array for Glioma Tumor Profiling and Description of a Novel Epi-Signature to Distinguish IDH1/IDH2 Mutant and Wild-Type Tumors.
Genes (Basel)
; 13(11)2022 11 09.
Article
in English
| MEDLINE | ID: mdl-36360312
12.
HLA-DR(negative), CD34(negative) hypergranular acute myeloid leukemia with trisomy 6 and del(5)(q22q33): case report and review of the literature.
J Pediatr Hematol Oncol
; 33(7): e289-95, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21768886
13.
Consensus Recommendations for MRD Testing in Adult B-Cell Acute Lymphoblastic Leukemia in Ontario.
Curr Oncol
; 28(2): 1376-1387, 2021 03 30.
Article
in English
| MEDLINE | ID: mdl-33808300
14.
The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome.
Seizure
; 92: 221-229, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34601452
15.
A Pan-Canadian Validation Study for the Detection of EGFR T790M Mutation Using Circulating Tumor DNA From Peripheral Blood.
JTO Clin Res Rep
; 2(8): 100212, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34590051
16.
Twin pregnancy with metastatic complete molar pregnancy and coexisting live fetus.
Radiol Case Rep
; 15(3): 195-200, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-31890067
17.
ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion.
Cancer Genet
; 240: 1-4, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31671381
18.
Müllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review.
J Pediatr Adolesc Gynecol
; 31(2): 158-161, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-28919146
19.
Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.
J Pediatr Genet
; 6(1): 30-41, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28180025
20.
Changes in expression of the CD200 tolerance-signaling molecule and its receptor (CD200R) by villus trophoblasts during first trimester missed abortion and in chronic histiocytic intervillositis.
Am J Reprod Immunol
; 78(1)2017 07.
Article
in English
| MEDLINE | ID: mdl-28326648