Detalhe da pesquisa
1.
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
J Am Soc Nephrol
; 34(12): 2039-2050, 2023 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37794564
2.
Performance of prenatal cfDNA screening for sex chromosomes.
Genet Med
; 25(8): 100879, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37154148
3.
Obstetrical, perinatal, and genetic outcomes associated with nonreportable prenatal cell-free DNA screening results.
Am J Obstet Gynecol
; 229(3): 300.e1-300.e9, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36965866
4.
Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study.
Prenat Diagn
; 43(13): 1574-1580, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38066724
5.
The Trifecta Study: Comparing Plasma Levels of Donor-derived Cell-Free DNA with the Molecular Phenotype of Kidney Transplant Biopsies.
J Am Soc Nephrol
; 33(2): 387-400, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35058354
6.
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.
Am J Nephrol
; 53(4): 297-306, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35325889
7.
Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
Am J Obstet Gynecol
; 227(1): 79.e1-79.e11, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35033576
8.
Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.
Am J Obstet Gynecol
; 227(2): 259.e1-259.e14, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35085538
9.
Non-invasive prenatal screening for fetal triploidy using single nucleotide polymorphism-based testing: Differential diagnosis and clinical management in cases showing an extra haplotype.
Prenat Diagn
; 42(8): 994-999, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35574995
10.
Clinician-reported chorionicity and zygosity assignment using single-nucleotide polymorphism-based cell-free DNA: Lessons learned from 55,344 twin pregnancies.
Prenat Diagn
; 42(10): 1235-1241, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35997139
11.
A meta-analysis on shared and distinct neural correlates of the decision-making underlying altruistic and retaliatory punishment.
Hum Brain Mapp
; 42(17): 5547-5562, 2021 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34415078
12.
Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos.
Hum Mol Genet
; 27(14): 2573-2585, 2018 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29688390
13.
Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Genet Med
; 22(7): 1282, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32483296
14.
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Genet Med
; 22(8): 1320-1328, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32366966
15.
Cell-free DNA fetal fraction in twin gestations in single-nucleotide polymorphism-based noninvasive prenatal screening.
Prenat Diagn
; 40(2): 179-184, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31711265
16.
Combining the use of a fetal fraction-based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy.
J Genet Couns
; 29(5): 800-806, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31872514
17.
Perceptual Learning of Appendicitis Diagnosis in Radiological Images.
J Vis
; 20(8): 16, 2020 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32790849
18.
Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development.
PLoS Genet
; 11(10): e1005601, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26491874
19.
Validation of an Enhanced Version of a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Detection of Fetal Aneuploidies.
Fetal Diagn Ther
; 40(3): 219-223, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27028530
20.
Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test.
Am J Obstet Gynecol
; 212(1): 79.e1-9, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25447960