Detalles de la búsqueda
1.
The Kinetics of COVID-19 Vaccine Response in a Community-Vaccinated Population.
J Immunol
; 208(4): 819-826, 2022 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35039333
2.
Frequency and Complexity of De Novo Structural Mutation in Autism.
Am J Hum Genet
; 98(4): 667-79, 2016 Apr 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27018473
3.
A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.
Value Health
; 20(4): 547-555, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28407996
4.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Hum Mutat
; 37(1): 127-34, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26467025
5.
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Hum Mutat
; 37(12): 1318-1328, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27633797
6.
Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis.
N Engl J Med
; 376(2): 188-189, 2017 01 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28076705
7.
Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.
Genet Med
; 17(3): 234-6, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25101914
8.
Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.
Am J Obstet Gynecol
; 211(5): 527.e1-527.e17, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25111587
9.
Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory.
Genet Med
; 14(1): 95-100, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22237437
10.
Maternal chromosome Xp deletion identified by prenatal cell-free DNA screening.
Prenat Diagn
; 37(9): 935-937, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28654736
11.
The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer.
J Assist Reprod Genet
; 29(7): 609-14, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22527905
12.
Variability in SARS-Cov-2 IgG Antibody Affinity To Omicron and Delta Variants in Convalescent and Community mRNA Vaccinated Individuals.
medRxiv
; 2022 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35262090
13.
Variability in Severe Acute Respiratory Syndrome Coronavirus 2 IgG Antibody Affinity to Omicron and Delta Variants in Convalescent and Community mRNA-Vaccinated Individuals.
Immunohorizons
; 6(5): 307-311, 2022 05 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-35618268
14.
The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.
Genet Med
; 13(12): 1042-4, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21804385
15.
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
Genet Med
; 13(1): 39-45, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21116185
16.
Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.
Genet Med
; 13(2): 166-72, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21068670
17.
Development and validation of a quantitative, non-invasive, highly sensitive and specific, electrochemical assay for anti-SARS-CoV-2 IgG antibodies in saliva.
PLoS One
; 16(7): e0251342, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34197468
18.
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
Genet Med
; 12(3): 162-73, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20168238
19.
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Pediatr Res
; 67(2): 217-20, 2010 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19858779
20.
Development and validation of a highly sensitive and specific electrochemical assay to quantify anti-SARS-CoV-2 IgG antibodies to facilitate pandemic surveillance and monitoring of vaccine response.
medRxiv
; 2020 Nov 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33236034