Detalhe da pesquisa
1.
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Hum Mutat
; 37(1): 119-26, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26444186
2.
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.
Genet Med
; 18(6): 545-53, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26562227
3.
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Genet Med
; 18(12): 1282-1289, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27228465
4.
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.
Genet Med
; 18(7): 712-9, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26681316
5.
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Genet Med
; 16(8): 601-8, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24503780
6.
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Am J Med Genet A
; 158A(11): 2781-7, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23034814
7.
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Hum Mutat
; 32(11): 1278-89, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21796729
8.
Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort.
J Mol Diagn
; 23(6): 671-682, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33872788
9.
N-cadherin and keratinocyte growth factor receptor mediate the functional interplay between Ki-RASG12V and p53V143A in promoting pancreatic cell migration, invasion, and tissue architecture disruption.
Mol Cell Biol
; 26(11): 4185-200, 2006 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-16705170
10.
Coordinated functions of E-cadherin and transforming growth factor beta receptor II in vitro and in vivo.
Cancer Res
; 66(20): 9878-85, 2006 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17047049
11.
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
J Mol Diagn
; 20(6): 789-801, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30096381
12.
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Mol Genet Genomic Med
; 4(2): 143-51, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27066507
13.
Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.
J Mol Diagn
; 18(6): 882-889, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27639548
14.
The paternally imprinted DLK1-GTL2 locus is differentially methylated in embryonal and alveolar rhabdomyosarcomas.
Int J Oncol
; 44(1): 295-300, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24173021
15.
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
J Mol Diagn
; 16(6): 639-47, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25157971
16.
A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.
Int J Pediatr Otorhinolaryngol
; 77(1): 123-7, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23121717
17.
IMP-1 displays cross-talk with K-Ras and modulates colon cancer cell survival through the novel proapoptotic protein CYFIP2.
Cancer Res
; 71(6): 2172-82, 2011 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21252116
18.
Parvin-beta inhibits breast cancer tumorigenicity and promotes CDK9-mediated peroxisome proliferator-activated receptor gamma 1 phosphorylation.
Mol Cell Biol
; 28(2): 687-704, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17998334
19.
Alternative splicing in protein associated with Myc (Pam) influences its binding to c-Myc.
J Neurosci Res
; 83(2): 222-32, 2006 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16342205
20.
PRR5 encodes a conserved proline-rich protein predominant in kidney: analysis of genomic organization, expression, and mutation status in breast and colorectal carcinomas.
Genomics
; 85(3): 338-51, 2005 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15718101