Detalhe da pesquisa
1.
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm.
Am J Hum Genet
; 108(4): 682-695, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33761318
2.
Benchmarking and improving the performance of variant-calling pipelines with RecallME.
Bioinformatics
; 39(12)2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38092052
3.
Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.
Eur Heart J
; 43(20): 1901-1916, 2022 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089333
4.
Myths to debunk: the non-compacted myocardium.
Eur Heart J Suppl
; 22(Suppl L): L6-L10, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654460
5.
International External Validation Study of the 2014 European Society of Cardiology Guidelines on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (EVIDENCE-HCM).
Circulation
; 137(10): 1015-1023, 2018 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29191938
6.
Hereditary muscle diseases and the heart: the cardiologist's perspective.
Eur Heart J Suppl
; 22(Suppl E): E13-E19, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32523431
7.
Genetics and clinics: current applications, limitations, and future developments.
Eur Heart J Suppl
; 21(Suppl B): B7-B14, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30948934
8.
The pathologic basis of recovery.
Heart Fail Clin
; 10(1 Suppl): S63-74, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24262354
9.
The need to modify patient selection to improve the benefits of implantable cardioverter-defibrillator for primary prevention of sudden death in non-ischaemic dilated cardiomyopathy.
Europace
; 15(12): 1693-701, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23946316
10.
Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies.
Biochem Biophys Res Commun
; 418(2): 217-21, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22266370
11.
Information technology solutions to support translational research on inherited cardiomyopathies.
Stud Health Technol Inform
; 169: 907-11, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21893878
12.
Pathologic substrate of gastropathy in Anderson-Fabry disease.
Orphanet J Rare Dis
; 15(1): 156, 2020 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571412
13.
A Multidimensional Approach of Surgical Mortality Assessment and Stratification (Smatt Score).
Sci Rep
; 10(1): 10964, 2020 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620902
14.
Correction: Age-specific reference values for carotid arterial stiffness estimated by ultrasonic wall tracking.
J Hum Hypertens
; 34(3): 258, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32001827
15.
Age-specific reference values for carotid arterial stiffness estimated by ultrasonic wall tracking.
J Hum Hypertens
; 34(3): 214-222, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31435004
16.
Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.
J Am Coll Cardiol
; 72(20): 2485-2506, 2018 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442292
17.
Common presentation of rare diseases: Aortic aneurysms & valves.
Int J Cardiol
; 257: 358-365, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29506732
18.
Genetic counselling and high-penetrance susceptibility gene analysis reveal the novel CDKN2A p.D84V (c.251A>T) mutation in melanoma-prone families from Italy.
Melanoma Res
; 27(2): 97-103, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28060055
19.
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
J Am Coll Cardiol
; 68(9): 949-66, 2016 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27561770
20.
A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients.
J Cardiovasc Med (Hagerstown)
; 22(1): 59-62, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33283995