Detalhe da pesquisa
1.
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.
Genet Med;
23(8): 1569-1573, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33846582
2.
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Am J Hum Genet;
87(6): 813-9, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21092923
3.
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Eur J Hum Genet;
31(6): 654-662, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36781956
4.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Eur J Hum Genet;
28(1): 40-49, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31488895
5.
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Hum Mutat;
29(9): 1125-32, 2008 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18470948
6.
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Neurogenetics;
9(3): 207-14, 2008 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18465152
7.
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
J Mol Diagn;
11(6): 514-23, 2009 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19779133