Detalhe da pesquisa
1.
SHRED Is a Regulatory Cascade that Reprograms Ubr1 Substrate Specificity for Enhanced Protein Quality Control during Stress.
Mol Cell
; 70(6): 1025-1037.e5, 2018 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861160
2.
A systems-level analysis of perfect adaptation in yeast osmoregulation.
Cell
; 138(1): 160-71, 2009 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19596242
3.
High positive predictive value 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorporates fetal fraction amplification.
Prenat Diagn
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622914
4.
Quantitative time-lapse fluorescence microscopy in single cells.
Annu Rev Cell Dev Biol
; 25: 301-27, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19575655
5.
A guidelines-consistent carrier screening panel that supports equity across diverse populations.
Genet Med
; 24(1): 201-213, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906503
6.
The impact of HBB-related hemoglobinopathies carrier status on fetal fraction in noninvasive prenatal screening.
Prenat Diagn
; 42(4): 524-529, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224763
7.
High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening.
Genet Med
; 23(3): 443-450, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33190143
8.
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.
Hum Mutat
; 41(8): 1365-1371, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383249
9.
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Genet Med
; 22(10): 1694-1702, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32595206
10.
Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk.
Prenat Diagn
; 40(3): 333-341, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31697845
11.
Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management.
Telemed J E Health
; 26(1): 8-17, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30807262
12.
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen.
Genet Med
; 21(9): 1948-1957, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30760891
13.
A data-driven evaluation of the size and content of expanded carrier screening panels.
Genet Med
; 21(9): 1931-1939, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816298
14.
Clinical utility of expanded carrier screening: results-guided actionability and outcomes.
Genet Med
; 21(5): 1041-1048, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30310157
15.
Correction: Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Genet Med
; 21(10): 2407-2408, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31089271
16.
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Genet Med
; 21(11): 2569-2576, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036917
17.
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Clin Genet
; 96(3): 236-245, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170325
18.
Systematic design and comparison of expanded carrier screening panels.
Genet Med
; 20(1): 55-63, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640244
19.
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Clin Chem
; 64(7): 1063-1073, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760218
20.
Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.
BMC Med Genet
; 19(1): 176, 2018 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30268105