Detalhe da pesquisa
1.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36451015
3.
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
4.
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
5.
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
J Med Genet
; 58(11): 778-782, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32900841
6.
Clinical value of next-generation sequencing compared to cytogenetics in patients with suspected myelodysplastic syndrome.
Br J Haematol
; 192(4): 729-736, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588428
7.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(6): 1065-1074, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547396
8.
Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo.
FASEB J
; 34(7): 9297-9306, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32441840
9.
Clinical outcomes and programming strategies of implantable cardioverter-defibrillator devices in paediatric hypertrophic cardiomyopathy: a UK National Cohort Study.
Europace
; 23(3): 400-408, 2021 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33221861
10.
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
11.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087165
12.
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
13.
A multicentre study of patients with Timothy syndrome.
Europace
; 20(2): 377-385, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371864
14.
A survey of exercise advice and recommendations in United Kingdom paediatric cardiac clinics.
Cardiol Young
; 27(5): 951-956, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28091358
15.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(11): 2228, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637969
16.
Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.
Pacing Clin Electrophysiol
; 39(5): 497-501, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26768964
17.
GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
Ann Hepatol
; 15(6): 907-910, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27740525
18.
Leadless pacemaker implantation in a patient with complex congenital heart disease and limited vascular access.
Indian Pacing Electrophysiol J
; 16(6): 201-204, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28401869
19.
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Front Oncol
; 13: 1208244, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37483495
20.
Standardizing nomenclature in regional anesthesia: an ASRA-ESRA Delphi consensus study of upper and lower limb nerve blocks.
Reg Anesth Pain Med
; 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050174