Detalhe da pesquisa
1.
Harmonizing variant classification for return of results in the All of Us Research Program.
Hum Mutat
; 43(8): 1114-1121, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34923710
2.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Genet Med
; 24(2): 293-306, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906454
3.
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation: A Joint Report of the Association for Molecular Pathology, Association for Pathology Informatics, and College of American Pathologists.
J Mol Diagn
; 25(1): 3-16, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36244574
4.
Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.
J Mol Diagn
; 23(5): 612-629, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33621668
5.
A novel custom resequencing array for dilated cardiomyopathy.
Genet Med
; 12(5): 268-78, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20474083
6.
Lipophilic bisphosphonates as dual farnesyl/geranylgeranyl diphosphate synthase inhibitors: an X-ray and NMR investigation.
J Am Chem Soc
; 131(14): 5153-62, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19309137
7.
Identification of a novel GREM1 duplication in a patient with multiple colon polyps.
Fam Cancer
; 18(1): 63-66, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29804199
8.
Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
J Mol Diagn
; 21(4): 646-657, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31201024
9.
Synthesis and anticancer activity of new class of bisphosphonates/phosphanamidates.
Eur J Med Chem
; 43(4): 885-92, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17640773
10.
Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.
J Mol Diagn
; 20(1): 4-27, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29154853
11.
Activity of sulfonium bisphosphonates on tumor cell lines.
J Med Chem
; 50(24): 6067-79, 2007 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-17963374
12.
Activity of nitrogen-containing and non-nitrogen-containing bisphosphonates on tumor cell lines.
J Med Chem
; 49(19): 5804-14, 2006 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-16970405
13.
Isoprenoid biosynthesis as a drug target: bisphosphonate inhibition of Escherichia coli K12 growth and synergistic effects of fosmidomycin.
J Med Chem
; 49(25): 7331-41, 2006 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-17149863
14.
The effect of the administration of human gamma globulins in a model of BCG infection in mice.
Tuberculosis (Edinb)
; 86(3-4): 268-72, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16677862
15.
A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays.
Cancer Genet
; 208(11): 525-36, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26454669
16.
Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
Leuk Res
; 35(9): 1188-92, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21376394