Detalhe da pesquisa
1.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med;
25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37534744
2.
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
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.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Hum Mutat;
37(1): 127-34, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26467025
5.
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Hum Mutat;
37(12): 1318-1328, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27633797
6.
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hum Mutat;
33(3): 476-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22161988
7.
Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.
Adv Genomics Genet;
8: 23-33, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31031559
8.
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Mol Genet Genomic Med;
2(6): 522-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25614874
9.
The identification of serum biomarkers of high-let radiation exposure and biological sequelae.
Health Phys;
98(2): 196-203, 2010 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20065683
10.
Proteomic expression profiling and identification of serum proteins using immobilized trypsin beads with MALDI-TOF/TOF.
J Proteome Res;
8(9): 4182-92, 2009 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19603828
11.
Serum proteomic biomarker discovery reflective of stage and obesity in breast cancer patients.
J Am Coll Surg;
208(5): 970-8; discussion 978-80, 2009 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19476873
12.
Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9.
Congest Heart Fail;
18(3): 183-6, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22587749