Detalhe da pesquisa
1.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
2.
Clinical genome sequencing: Three years' experience at a tertiary children's hospital.
Genet Med
; 25(10): 100916, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334785
3.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Am J Hum Genet
; 95(2): 143-61, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25065914
4.
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Genet Med
; 19(8): 936-944, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125085
5.
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
N Engl J Med
; 369(16): 1502-11, 2013 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24088041
6.
Molecular findings among patients referred for clinical whole-exome sequencing.
JAMA
; 312(18): 1870-9, 2014 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326635
7.
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Genome Med
; 11(1): 30, 2019 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31101064
8.
Digital necrosis in an infant with severe spinal muscular atrophy.
Neurol Genet
; 5(5): e361, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31742229