Detalhe da pesquisa
1.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Am J Hum Genet
; 111(3): 509-528, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38412861
2.
Identification of a robust DNA methylation signature for Fanconi anemia.
Am J Hum Genet
; 110(11): 1938-1949, 2023 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37865086
3.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Genet Med
; 26(3): 101041, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38054406
4.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38251460
5.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-38126281
6.
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
J Hum Genet
; 69(2): 101-105, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37904029
7.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clin Genet
; 105(6): 655-660, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38384171
8.
Development of a comprehensive approach to adult hereditary cancer testing in Ontario.
J Med Genet
; 60(8): 769-775, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36564171
9.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Am J Med Genet C Semin Med Genet
; 193(3): e32056, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37654076
10.
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Genet Med
; 25(8): 100871, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37120726
11.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Genet Med
; 25(1): 63-75, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36399132
12.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-36451015
13.
Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of Mutations.
Can J Neurol Sci
; 50(5): 738-744, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35892476
14.
Complexity in Genetic Epilepsies: A Comprehensive Review.
Int J Mol Sci
; 24(19)2023 Sep 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37834053
15.
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
Int J Mol Sci
; 24(18)2023 Sep 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37762546
16.
Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.
Hum Mol Genet
; 29(R1): R27-R32, 2020 09 30.
Artigo
Inglês
| MEDLINE | ID: mdl-32644126
17.
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
Inglês
| MEDLINE | ID: mdl-30929737
18.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Genet Med
; 24(1): 51-60, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34906459
19.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35027293
20.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
; 24(5): 1096-1107, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35063350