Detalhe da pesquisa
1.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
; 147(5): 1751-1767, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128568
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.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Genet Med
; 24(6): 1336-1348, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305867
4.
Diagnostic outcomes from a combined Pediatric Dermatology-Genetics clinic.
Pediatr Dermatol
; 39(4): 587-589, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613693
5.
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(3): 453-461, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732716
6.
Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(8): 1285-1287, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32404921