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Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Genetics in medicine, 2016-12, Vol.18 (12), p.1282-1289

2016

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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Genetics in medicine, 2014-08, Vol.16 (8), p.601-608

2014

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VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Genetics in medicine, 2016-07, Vol.18 (7), p.712-719

2016

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Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

Genetics in medicine, 2016-06, Vol.18 (6), p.545-553

2016

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IMP-1 Displays Cross-Talk with K-Ras and Modulates Colon Cancer Cell Survival through the Novel Proapoptotic Protein CYFIP2

Cancer research (Chicago, Ill.), 2011-03, Vol.71 (6), p.2172-2182

2011

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Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

The Journal of molecular diagnostics : JMD, 2018-11, Vol.20 (6), p.789-801

2018

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The paternally imprinted DLK1-GTL2 locus is differentially methylated in embryonal and alveolar rhabdomyosarcomas

International journal of oncology, 2014-01, Vol.44 (1), p.295-300

2014

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EGFR-induced cell migration is mediated predominantly by the JAK-STAT pathway in primary esophageal keratinocytes

American journal of physiology: Gastrointestinal and liver physiology, 2004-12, Vol.287 (6), p.G1227-G1237

2004

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Parvin-β Inhibits Breast Cancer Tumorigenicity and Promotes CDK9-Mediated Peroxisome Proliferator-Activated Receptor Gamma 1 Phosphorylation

Molecular and Cellular Biology, 2008-01, Vol.28 (2), p.687-704

2008

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Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Molecular genetics & genomic medicine, 2016-03, Vol.4 (2), p.143-151

2016

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The TSC1 Tumor Suppressor Hamartin Interacts with Neurofilament-L and Possibly Functions as a Novel Integrator of the Neuronal Cytoskeleton

The Journal of biological chemistry, 2002-11, Vol.277 (46), p.44180-44186

2002

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PRR5 encodes a conserved proline-rich protein predominant in kidney: analysis of genomic organization, expression, and mutation status in breast and colorectal carcinomas

Genomics (San Diego, Calif.), 2005-03, Vol.85 (3), p.338-351

2005

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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

Molecular and Cellular Biology, 2006-06, Vol.26 (11), p.4185-4200

2006

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Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology

The Journal of molecular diagnostics : JMD, 2014-11, Vol.16 (6), p.639-647

2014

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Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort

The Journal of molecular diagnostics : JMD, 2021-06, Vol.23 (6), p.671-682

2021

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Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus

Human mutation, 2016-01, Vol.37 (1), p.119-126

2016

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A University-based Six Sigma Program

Quality and reliability engineering international, 2005-04, Vol.21 (3), p.243-248

2005

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Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy

The Journal of molecular diagnostics : JMD, 2016-11, Vol.18 (6), p.882-889

2016

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Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus: HUMAN MUTATION

Human mutation, 2016-01, Vol.37 (1), p.119-126

2016

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Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing

The Journal of molecular diagnostics : JMD, 2016-11, Vol.18 (6), p.882-889

2016

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Comprehensive Diagnostic Testing for Stereocilin

The Journal of molecular diagnostics : JMD, 2014-11, Vol.16 (6), p.639-647

2014

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Coordinated functions of E-cadherin and transforming growth factor β receptor II in vitro and in vivo

Cancer research (Chicago, Ill.), 2006-10, Vol.66 (20), p.9878-9885

2006

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IMP-1 displays crosstalk with K-Ras and modulates colon cancer cell survival through the novel pro-apoptotic protein CYFIP2

Cancer research (Chicago, Ill.), 2011-01, Vol.71 (6), p.2172-2182

2011

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Genome-Wide Association Study for Hb F Determinants in Sardinian Patients with Thalassemia Major and Intermedia

Blood, 2008-11, Vol.112 (11), p.1875-1875

2008

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Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

IMP-1 Displays Cross-Talk with K-Ras and Modulates Colon Cancer Cell Survival through the Novel Proapoptotic Protein CYFIP2

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

The paternally imprinted DLK1-GTL2 locus is differentially methylated in embryonal and alveolar rhabdomyosarcomas

EGFR-induced cell migration is mediated predominantly by the JAK-STAT pathway in primary esophageal keratinocytes

Parvin-β Inhibits Breast Cancer Tumorigenicity and Promotes CDK9-Mediated Peroxisome Proliferator-Activated Receptor Gamma 1 Phosphorylation

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

The TSC1 Tumor Suppressor Hamartin Interacts with Neurofilament-L and Possibly Functions as a Novel Integrator of the Neuronal Cytoskeleton

PRR5 encodes a conserved proline-rich protein predominant in kidney: analysis of genomic organization, expression, and mutation status in breast and colorectal carcinomas

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

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology

Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus

A University-based Six Sigma Program

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus: HUMAN MUTATION

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

Comprehensive Diagnostic Testing for Stereocilin

Coordinated functions of E-cadherin and transforming growth factor β receptor II in vitro and in vivo

IMP-1 displays crosstalk with K-Ras and modulates colon cancer cell survival through the novel pro-apoptotic protein CYFIP2

Genome-Wide Association Study for Hb F Determinants in Sardinian Patients with Thalassemia Major and Intermedia

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