Detalhe da pesquisa
1.
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Genet Med
; 22(4): 785-792, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754268
2.
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Genet Med
; 22(3): 670-671, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844178
3.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Genet Med
; 21(1): 195-206, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915382
4.
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
J Hum Genet
; 60(7): 363-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809939
5.
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
Eur J Hum Genet
; 24(5): 681-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26306640
6.
Evaluation of laboratory perspectives on hereditary cancer panels.
Fam Cancer
; 15(4): 689-96, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26869169
7.
Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.
J Pediatr Endocrinol Metab
; 29(5): 523-31, 2016 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26894574
8.
Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes.
Per Med
; 11(2): 155-165, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29751380