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.
A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages.
Hum Reprod
; 38(8): 1628-1642, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37218343
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 and exome sequencing in prenatal diagnosis.
Curr Opin Obstet Gynecol
; 33(2): 148-155, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33620893
7.
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
8.
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
9.
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
10.
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
Prenat Diagn
; 40(8): 1005-1012, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350887
11.
Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis.
Am J Obstet Gynecol
; 221(5): 493.e1-493.e11, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31207233
12.
Reply.
Am J Obstet Gynecol
; 221(6): 661-662, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31469991
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.
The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.
Int J Neonatal Screen
; 8(2)2022 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35735787
15.
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
16.
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.
Front Genet
; 13: 803088, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35495136
17.
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
18.
Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review.
Genes (Basel)
; 12(1)2020 12 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33374124
19.
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
Front Genet
; 10: 761, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31475041
20.
Chromosome copy number variants in fetuses with syndromic malformations.
Birth Defects Res
; 109(10): 725-733, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28568742