Detalhe da pesquisa
1.
Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Hum Mutat
; 41(5): 884-905, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027066
2.
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Genet Med
; 22(2): 336-344, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534211
3.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311378
4.
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
J Biol Chem
; 292(9): 3866-3876, 2017 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28057753
5.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
J Hum Genet
; 63(3): 349-356, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29279609
6.
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Genet Med
; 19(10): 1096-1104, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301460
7.
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
8.
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Am J Med Genet A
; 173(5): 1378-1382, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371479
9.
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.
Diabetes Res Clin Pract
; 151: 231-236, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31063852
10.
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.
Neurol Genet
; 5(5): e357, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31750392
11.
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.
J Clin Oncol
; 36(28): 2863-2871, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113886