Detalhe da pesquisa
1.
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms.
Nucleic Acids Res;
51(D1): D1168-D1178, 2023 01 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36350663
2.
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.
Hum Genet;
142(3): 363-377, 2023 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36526900
3.
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Am J Hum Genet;
105(6): 1102-1111, 2019 12 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31679651
4.
Deciphering the complexity of simple chromosomal insertions by genome sequencing.
Hum Genet;
140(2): 361-380, 2021 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32728808
5.
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.
Genet Med;
23(7): 1225-1233, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33772221
6.
The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings.
Acta Obstet Gynecol Scand;
100(2): 235-243, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32981064
7.
Low-pass genome sequencing: a validated method in clinical cytogenetics.
Hum Genet;
139(11): 1403-1415, 2020 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32451733
8.
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Genet Med;
22(3): 500-510, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31447483
9.
A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM).
J Assist Reprod Genet;
36(8): 1609-1621, 2019 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31292818
10.
Homology-independent multiallelic disruption via CRISPR/Cas9-based knock-in yields distinct functional outcomes in human cells.
BMC Biol;
16(1): 151, 2018 12 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30593266
11.
Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.
Genet Med;
20(7): 697-707, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29095815
12.
The detection of mosaicism by prenatal BoBs™.
Prenat Diagn;
33(1): 42-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23168997
13.
Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics.
Genes (Basel);
14(7)2023 06 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37510263
14.
Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing.
Asian J Androl;
24(3): 248-254, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35017386
15.
Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.
Diagnostics (Basel);
12(10)2022 Oct 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36292129
16.
Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis.
Front Genet;
12: 742325, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34616436
17.
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
Front Genet;
10: 761, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31475041
18.
Prenatal detection of a de novo Yqh-acrocentric translocation.
Clin Biochem;
39(3): 219-23, 2006 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16515778
19.
Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome.
Prenat Diagn;
31(2): 218-20, 2011 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21268044
20.
Validation of a robust PCR-based assay for quantifying fragile X CGG repeats.
Clin Chim Acta;
456: 137-143, 2016 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26947966