Detalhe da pesquisa
1.
Exonic mutations in cell-cell adhesion may contribute to CADASIL-related CSVD pathology.
Hum Genet
; 142(9): 1361-1373, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422595
2.
Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
Mol Genet Genomics
; 295(3): 751-763, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32146541
3.
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity.
Int J Mol Sci
; 19(10)2018 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30314295
4.
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
Hum Genomics
; 10(1): 38, 2016 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27881154
5.
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Dev Med Child Neurol
; 58(6): 639-44, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26814174
6.
Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches.
Genes (Basel)
; 15(4)2024 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674378
7.
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.
Mol Neurobiol
; 60(6): 3034-3043, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36786913
8.
Discriminating head trauma outcomes using machine learning and genomics.
J Mol Med (Berl)
; 100(2): 303-312, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797388
9.
Investigating a Genetic Link Between Alzheimer's Disease and CADASIL-Related Cerebral Small Vessel Disease.
Mol Neurobiol
; 59(12): 7293-7302, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175824
10.
Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine.
Front Mol Neurosci
; 15: 892820, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35928792
11.
Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.
J Genet
; 1002021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34470922
12.
The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients.
Epilepsy Res
; 172: 106593, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721710
13.
Genome Sequencing in Esophageal Squamous Cell Carcinoma.
Methods Mol Biol
; 2129: 217-240, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32056181
14.
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Biomedicines
; 8(5)2020 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32466254
15.
Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach.
J Neurotrauma
; 37(17): 1870-1879, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32233732
16.
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.
Cells
; 9(11)2020 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33126486
17.
Variant Call Format-Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data.
J Mol Diagn
; 21(6): 951-960, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31442673
18.
Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.
Front Genet
; 9: 20, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29467791
19.
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
Front Immunol
; 9: 420, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556235
20.
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Mol Genet Genomic Med
; 4(2): 211-22, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066515