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1.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Article
in English
| MEDLINE | ID: mdl-38084291
2.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Article
in English
| MEDLINE | ID: mdl-32243864
3.
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Am J Hum Genet
; 100(5): 773-788, 2017 May 04.
Article
in English
| MEDLINE | ID: mdl-28475860
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.
Article
in English
| MEDLINE | ID: mdl-30214068
5.
Recurrent genomic alterations in sequential progressive leukoplakia and oral cancer: drivers of oral tumorigenesis?
Hum Mol Genet
; 23(10): 2618-28, 2014 May 15.
Article
in English
| MEDLINE | ID: mdl-24403051
6.
Identification of a microRNA signature associated with progression of leukoplakia to oral carcinoma.
Hum Mol Genet
; 18(24): 4818-29, 2009 Dec 15.
Article
in English
| MEDLINE | ID: mdl-19776030
7.
Programmed cell death 4 loss increases tumor cell invasion and is regulated by miR-21 in oral squamous cell carcinoma.
Mol Cancer
; 9: 238, 2010 Sep 10.
Article
in English
| MEDLINE | ID: mdl-20831814
8.
Optimization and analysis of a quantitative real-time PCR-based technique to determine microRNA expression in formalin-fixed paraffin-embedded samples.
BMC Biotechnol
; 10: 47, 2010 Jun 23.
Article
in English
| MEDLINE | ID: mdl-20573258
9.
A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.
Hum Genome Var
; 7(1): 39, 2020 Nov 19.
Article
in English
| MEDLINE | ID: mdl-33298910
10.
Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.
Eur J Med Genet
; 62(3): 177-181, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-30006056
11.
Genomic analysis of nucleoside transporters in Diptera and functional characterization of DmENT2, a Drosophila equilibrative nucleoside transporter.
Physiol Genomics
; 28(3): 337-47, 2007 Feb 12.
Article
in English
| MEDLINE | ID: mdl-17090699
12.
Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity.
Nucleic Acids Res
; 30(20): 4339-50, 2002 Oct 15.
Article
in English
| MEDLINE | ID: mdl-12384580
13.
Angelman syndrome due to a termination codon mutation of the UBE3A gene.
J Child Neurol
; 28(3): 392-5, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-22566713
14.
Low prevalence of human papillomavirus in oral cavity carcinomas.
Head Neck Oncol
; 2: 6, 2010 Mar 12.
Article
in English
| MEDLINE | ID: mdl-20226055
15.
Claudin 1 overexpression increases invasion and is associated with aggressive histological features in oral squamous cell carcinoma.
Cancer
; 113(11): 3169-80, 2008 Dec 01.
Article
in English
| MEDLINE | ID: mdl-18991282
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