Detalhe da pesquisa
1.
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Hum Mutat
; 43(8): 1097-1113, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837432
2.
Evaluating parental genetic knowledge of hearing loss with and without pre-test genetic counseling in a pediatric otolaryngology clinic.
J Genet Couns
; 30(5): 1379-1387, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734538
3.
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Am J Med Genet A
; 182(8): 1906-1912, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573057
4.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Genet Med
; 21(4): 861-866, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214068
5.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861
6.
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
J Med Genet
; 53(1): 53-61, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26545876
7.
Regulating whole exome sequencing as a diagnostic test.
Hum Genet
; 135(6): 655-73, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27167135
8.
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.
Eur J Med Genet
; 60(6): 312-316, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377322