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1.
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Ann Hum Genet
; 88(2): 113-125, 2024 03.
Article
in English
| MEDLINE | ID: mdl-37807935
2.
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Am J Med Genet A
; 194(6): e63544, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38258498
3.
BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.
Breast Cancer Res Treat
; 199(1): 127-136, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36881271
4.
Genetic investigation of syndromic forms of obesity.
Int J Obes (Lond)
; 46(9): 1582-1586, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35597848
5.
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.
Ann Hum Genet
; 85(1): 18-26, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32761927
6.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Am J Med Genet A
; 185(8): 2335-2344, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33988290
7.
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA.
Genet Med
; 22(5): 962-973, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32024963
8.
Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant Populations.
Clin Chem
; 66(11): 1414-1423, 2020 11 01.
Article
in English
| MEDLINE | ID: mdl-33141904
9.
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.
Genet Med
; 21(12): 2774-2780, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31197268
10.
Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain.
Neural Plast
; 2018: 2406170, 2018.
Article
in English
| MEDLINE | ID: mdl-30050570
11.
Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals.
Neural Plast
; 2016: 2584940, 2016.
Article
in English
| MEDLINE | ID: mdl-27213057
12.
Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene.
Genet Mol Biol
; 36(4): 498-501, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24385851
13.
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
Rev Paul Pediatr
; 41: e2022057, 2023.
Article
in English
| MEDLINE | ID: mdl-37042943
14.
A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.
Diagnostics (Basel)
; 13(21)2023 Oct 24.
Article
in English
| MEDLINE | ID: mdl-37958189
15.
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Sci Rep
; 12(1): 15184, 2022 09 07.
Article
in English
| MEDLINE | ID: mdl-36071085
16.
Fetal sex determination in twin pregnancies using non-invasive prenatal testing.
NPJ Genom Med
; 4: 15, 2019.
Article
in English
| MEDLINE | ID: mdl-31285848
17.
Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum.
Parkinsonism Relat Disord
; 123: 105947, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38151385
18.
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 / Um caso brasileiro de síndrome IFAP com ictiose congênita grave e malformações de membros causadas por uma variante rara em MBTPS2
Rev. Paul. Pediatr. (Ed. Port., Online)
; 41: e2022057, 2023. graf
Article
in English
|
LILACS-Express
| ID: biblio-1431373
19.
Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.
Eur J Med Genet
; 60(12): 667-674, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28882788
20.
Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer's Disease?
Front Genet
; 7: 107, 2016.
Article
in English
| MEDLINE | ID: mdl-27379157