Detalhe da pesquisa
1.
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
Am J Hum Genet;
111(5): 825-832, 2024 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38636509
2.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med;
25(5): 100020, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36718845
3.
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Nat Commun;
14(1): 3090, 2023 05 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37248219
4.
Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach.
Mol Genet Genomic Med;
7(5): e630, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30900393