Detalhe da pesquisa
1.
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Hum Mol Genet
; 32(15): 2411-2421, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154571
2.
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
J Med Genet
; 60(12): 1153-1160, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37290907
3.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
J Med Genet
; 59(10): 931-937, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544840
4.
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis.
Genet Med
; 24(5): 1027-1036, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35219592
5.
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Mol Psychiatry
; 26(5): 1706-1718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597717
6.
A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype.
Am J Med Genet A
; 188(8): 2421-2428, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593535
7.
Neurodevelopmental functioning in probands and non-proband carriers of 22q11.2 microduplication.
Am J Med Genet A
; 188(10): 2999-3008, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899837
8.
Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada.
Can J Neurol Sci
; 47(1): 61-68, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587668
9.
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
J Med Genet
; 56(12): 792-800, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300550
10.
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Am J Med Genet B Neuropsychiatr Genet
; 183(5): 268-276, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32372567
11.
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
J Med Genet
; 55(4): 215-221, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29496978
12.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Hum Mutat
; 39(11): 1650-1659, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30095202
13.
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Genet Med
; 20(2): 172-180, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771244
14.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771251
15.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
CMAJ
; 190(5): E126-E136, 2018 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29431110
16.
A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Genet Med
; 19(11): 1268-1275, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471434
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195815
18.
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.
Am J Med Genet A
; 173(9): 2467-2471, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742278
19.
A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.
Am J Med Genet A
; 173(5): 1287-1293, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371330
20.
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Am J Med Genet A
; 173(10): 2725-2730, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28840640