Detalhe da pesquisa
1.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Clin Genet
; 104(2): 210-225, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37334874
2.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Am J Med Genet A
; 191(3): 699-710, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36563179
3.
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Mol Genet Genomic Med
; 8(2): e1053, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31880409