Detalhe da pesquisa
1.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616647
2.
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Hum Mutat
; 42(5): 626-638, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644936
3.
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(5): 799-812, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795824
4.
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.
Am J Med Genet A
; 185(9): 2782-2788, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050715
5.
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(2): 100316, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36507974
6.
Addendum: Technical standards and guidelines for spinal muscular atrophy testing.
Genet Med
; 23(12): 2462, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046848
7.
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Ann Clin Transl Neurol
; 9(8): 1302-1309, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35734998
8.
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.
JIMD Rep
; 45: 105-110, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30570712