Detalhe da pesquisa
1.
Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort.
Genet Med
; 25(2): 100317, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36459106
2.
Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.
J Genet Couns
; 29(1): 56-66, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31663226
3.
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations.
J Mol Diagn
; 26(3): 202-212, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38171482
4.
Cystic fibrosis carrier testing in an ethnically diverse US population.
Clin Chem
; 57(6): 841-8, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21474639
5.
A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing.
Sci Rep
; 10(1): 15060, 2020 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929119