Detalhe da pesquisa
1.
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.
J Med Genet
; 59(11): 1075-1081, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35387801
2.
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Sci Rep
; 10(1): 1413, 2020 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996704