Detalhe da pesquisa
1.
Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.
Eur Heart J
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747976
2.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
3.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Am J Hum Genet
; 108(5): 951-961, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894126
4.
Risk Prediction of New Intracranial Aneurysms at Follow-Up Screening in People With a Positive Family History.
Stroke
; 54(4): 1015-1020, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36846982
5.
Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs.
Circ Res
; 129(3): 349-365, 2021 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092082
6.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Int J Mol Sci
; 24(10)2023 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240074
7.
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Hum Mutat
; 43(9): 1333-1342, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819174
8.
Number of Affected Relatives, Age, Smoking, and Hypertension Prediction Score for Intracranial Aneurysms in Persons With a Family History for Subarachnoid Hemorrhage.
Stroke
; 53(5): 1645-1650, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35144487
9.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Am J Hum Genet
; 105(5): 1040-1047, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630789
10.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol
; 41(1): e63-e71, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33207932
11.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
Am J Hum Genet
; 102(1): 133-141, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304371
12.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
; 99(2): 318-324, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169370
13.
Location of intracranial aneurysms is the main factor associated with rupture in the ICAN population.
J Neurol Neurosurg Psychiatry
; 92(2): 122-128, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33097563
14.
Infanticide vs. inherited cardiac arrhythmias.
Europace
; 23(3): 441-450, 2021 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200177
15.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
16.
RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome.
Eur Heart J
; 40(37): 3081-3094, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31114854
17.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Am J Hum Genet
; 99(3): 666-673, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523598
18.
bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files.
Bioinformatics
; 34(7): 1224-1225, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29186339
19.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Genet Med
; 21(9): 2025-2035, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723320
20.
Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome.
Europace
; 20(12): 2014-2020, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688407