Detalhe da pesquisa
1.
Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History.
Cell
; 175(2): 347-359.e14, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290141
2.
The Next Frontier in Noninvasive Prenatal Diagnostics: Cell-Free Fetal DNA Analysis for Monogenic Disease Assessment.
Annu Rev Genomics Hum Genet
; 23: 413-425, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316613
3.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(6): 1140-1152, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659929
4.
Imaging fetal anatomy.
Semin Cell Dev Biol
; 131: 78-92, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35282997
5.
Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.
BMC Genomics
; 25(1): 366, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622538
6.
The Emergence and Global Spread of Noninvasive Prenatal Testing.
Annu Rev Genomics Hum Genet
; 22: 309-338, 2021 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33848430
7.
Feasibility for non-invasive prenatal fetal blood group and platelet genotyping by massively parallel sequencing: A single test system for multiple atypical red cell, platelet and quality control markers.
Br J Haematol
; 204(2): 694-705, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37984869
8.
Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study.
Lancet
; 401(10378): 762-771, 2023 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739882
9.
NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework.
Brief Bioinform
; 23(1)2022 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34529041
10.
Prenatal Brain Maturation is Delayed in Neonates with Congenital Diaphragmatic Hernia.
J Pediatr
; 264: 113738, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37722557
11.
Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Clin Genet
; 105(1): 52-61, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822034
12.
Two novel deletion mutations in ß-globin gene cause ß-thalassemia trait in two Chinese families.
Hum Genomics
; 17(1): 111, 2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062488
13.
Prenatal Diagnosis of Placenta Accreta Spectrum Disorders: Deep Learning Radiomics of Pelvic MRI.
J Magn Reson Imaging
; 59(2): 496-509, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37222638
14.
The importance of patient-specific resources for families dealing with prenatal rare diseases.
Am J Med Genet A
; 194(3): e63450, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37861066
15.
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Am J Med Genet A
; 194(3): e63457, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37881147
16.
Causes of death in individuals with trisomy 18 after the first year of life.
Am J Med Genet A
; 194(2): 279-287, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822198
17.
Anticoagulation use is associated with lower fetal fraction and more indeterminate results.
Am J Obstet Gynecol
; 230(1): 95.e1-95.e10, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429430
18.
Incidence and causes of perinatal death in prenatally diagnosed vasa previa: a systematic review and meta-analysis.
Am J Obstet Gynecol
; 230(1): 58-65, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37321285
19.
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
BMC Infect Dis
; 24(1): 145, 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38291356
20.
Non-invasive cell-free DNA-based approach for the diagnosis of clinical miscarriage: A retrospective study.
BJOG
; 131(2): 213-221, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37533357