Detalhe da pesquisa
1.
A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.
Am J Med Genet A
; : e63727, 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38808951
2.
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).
Hum Genet
; 142(12): 1721-1735, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37889307
3.
Patient-reported outcome measures on mental health and psychosocial factors in patients with Brugada syndrome.
Europace
; 25(9)2023 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37772950
4.
Genetic testing in children with Brugada syndrome: results from a large prospective registry.
Europace
; 25(5)2023 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061847
5.
Heart rate variability and microvolt T wave alternans changes during ajmaline test may predict prognosis in Brugada syndrome.
Clin Auton Res
; 33(1): 51-62, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645559
6.
Predicting disease-causing variant combinations.
Proc Natl Acad Sci U S A
; 116(24): 11878-11887, 2019 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127050
7.
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
BMC Cancer
; 19(1): 313, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30947698
8.
Understanding mutational effects in digenic diseases.
Nucleic Acids Res
; 45(15): e140, 2017 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28911095
9.
DIDA: A curated and annotated digenic diseases database.
Nucleic Acids Res
; 44(D1): D900-7, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26481352
10.
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variantã- Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping.
Circ J
; 82(1): 53-61, 2017 12 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28781330
11.
Contribution of Cardiac Sodium Channel ß-Subunit Variants to Brugada Syndrome.
Circ J
; 79(10): 2118-29, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179811
12.
Genetic Testing in Brugada Syndrome: A 30-Year Experience.
Circ Arrhythm Electrophysiol
; 17(4): e012374, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38426305
13.
Barriers and facilitators for the implementation of patient-centered care in cardiogenetics: a Delphi study among ERN GUARD-heart members.
Eur J Hum Genet
; 31(12): 1371-1380, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543931
14.
Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations.
Eur J Hum Genet
; 2023 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173410
15.
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review.
Eur J Hum Genet
; 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097768
16.
Atrial Abnormalities in Brugada Syndrome: Evaluation With ECG Imaging.
JACC Clin Electrophysiol
; 9(10): 2096-2105, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565952
17.
Genetics in Probands With Idiopathic Ventricular Fibrillation: A Multicenter Study.
JACC Clin Electrophysiol
; 9(8 Pt 1): 1296-1306, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37227348
18.
Identification of differentially methylated regions in rare diseases from a single-patient perspective.
Clin Epigenetics
; 14(1): 174, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36527161
19.
SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mapping.
Heart Rhythm
; 19(6): 945-951, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35124229
20.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Nat Genet
; 54(3): 232-239, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35210625