Detalhe da pesquisa
1.
Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise.
Prenat Diagn
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622635
2.
Assessment of a Simplified Cell-Free DNA Method for Prenatal Down Syndrome Screening.
Clin Chem
; 68(11): 1449-1458, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103259
3.
Preeclampsia at delivery is associated with lower serum vitamin D and higher antiangiogenic factors: a case control study.
Reprod Biol Endocrinol
; 20(1): 8, 2022 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34991614
4.
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(3): 462-474, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700163
5.
Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.
Genet Med
; 22(4): 777-784, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31929509
6.
Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.
Genet Med
; 20(11): 1312-1323, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30514979
7.
CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.
Genet Med
; 20(1): 83-90, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661487
8.
Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review.
Genet Med
; 19(11): 1187-1201, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640238
9.
The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population.
Genet Med
; 19(7): 778-786, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28079901
10.
Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.
Genet Med
; 18(12): 1290-1294, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27253733
11.
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(6): 979-988, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33790423
12.
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(6): 989-995, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33727704
13.
Where have all the trisomies gone?
Am J Obstet Gynecol
; 215(5): 583-587.e1, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27793310
14.
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies.
Prenat Diagn
; 41(10): 1222-1232, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33016373
15.
Subclinical Hypothyroidism or Hypothyroxinemia in Pregnancy.
N Engl J Med
; 377(7): 700-1, 2017 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28816427
16.
Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys.
Genet Med
; 17(1): 58-62, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24946157
17.
Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.
Genet Med
; 17(3): 219-25, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25077647
18.
Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?
Genet Med
; 17(11): 897-900, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25834952
19.
Evaluating first trimester maternal serum screening combinations for Down syndrome suitable for use with reflexive secondary screening via sequencing of cell free DNA: high detection with low rates of invasive procedures.
Prenat Diagn
; 35(8): 789-96, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25967109
20.
Modeling risk for severe adverse outcomes using angiogenic factor measurements in women with suspected preterm preeclampsia.
Prenat Diagn
; 35(4): 386-93, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25641027