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Lipoprotein(a) Concentrations, Rosuvastatin Therapy, and Residual Vascular Risk: An Analysis From the JUPITER Trial (Justification for the Use of Statins in Prevention: An Intervention Trial Evaluating Rosuvastatin)

Circulation (New York, N.Y.), 2014-02, Vol.129 (6), p.635-642

2014

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Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

Genetics in medicine, 2010-03, Vol.12 (3), p.162-173

2010

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OncoKB: A Precision Oncology Knowledge Base

JCO precision oncology, 2017-11 (1), p.1-16

2017

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Targeted Next-Generation Sequencing Reveals Exceptionally High Rates of Molecular Driver Mutations in Never-Smokers With Lung Adenocarcinoma

The oncologist (Dayton, Ohio), 2022-06, Vol.27 (6), p.476-486

2022

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Mutational analysis using next generation sequencing in pediatric thyroid cancer reveals BRAF and fusion oncogenes are common

International journal of pediatric otorhinolaryngology, 2022-06, Vol.157, p.111121-111121, Article 111121

2022

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Low circulating 25-hydroxyvitamin D concentrations are associated with defects in insulin action and insulin secretion in persons with prediabetes

The Journal of nutrition, 2015-04, Vol.145 (4), p.714-719

2015

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Mutational Analysis in Pediatric Thyroid Cancer and Correlations with Age, Ethnicity, and Clinical Presentation

Thyroid (New York, N.Y.), 2016-02, Vol.26 (2), p.227-234

2016

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FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

Genetics in medicine, 2011-01, Vol.13 (1), p.39-45

2011

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Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion

The Journal of molecular diagnostics : JMD, 2009-05, Vol.11 (3), p.253-256

2009

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Relationship Among 25-Hydroxyvitamin D Concentrations, Insulin Action, and Cardiovascular Disease Risk in Patients With Essential Hypertension

American journal of hypertension, 2015-02, Vol.28 (2), p.266-272

2015

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Relationship between insulin resistance and amino acids in women and men

Physiological reports, 2015-05, Vol.3 (5), p.e12392-n/a

2015

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Response to Letter Regarding Article, “Lipoprotein(a) Concentrations, Rosuvastatin Therapy, and Residual Vascular Risk: An Analysis From the JUPITER Trial (Justification for the Use of Statins in Prevention: An Intervention Trial Evaluating Rosuvastatin)”

Circulation (New York, N.Y.), 2014-10, Vol.130 (17), p.e152-e152

2014

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Membrane Association of the Escherichia coli Enterobactin Synthase Proteins EntB/G, EntE, and EntF

Journal of Bacteriology, 2000-03, Vol.182 (6), p.1768-1773

2000

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Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome

Genetics in medicine, 2007-04, Vol.9 (4), p.199-207

2007

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Novel and recurrent rearrangements in the CFTR gene : clinical and laboratory implications for cystic fibrosis screening

Human genetics, 2006-03, Vol.119 (1-2), p.126-136

2006

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FMR1 Premutation Carrier Frequency in Patients Undergoing Routine Population-Based Carrier Screening: Insights Into the Prevalence of Fragile X Syndrome, Fragile X-Associated Tremor/Ataxia Syndrome, and Fragile X-Associated Primary Ovarian Insufficiency in the United States

Obstetrical & gynecological survey, 2011-05, Vol.66 (5), p.277-279

2011

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Extensive sequencing of the CFTR gene : lessons learned from the first 157 patient samples

Human genetics, 2005-12, Vol.118 (3-4), p.331-338

2005

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Enterobactin synthase polypeptides of Escherichia coli are present in an osmotic-shock-sensitive cytoplasmic locality

Microbiology (Society for General Microbiology), 1997-01, Vol.143 ( Pt 1) (1), p.147-156

1997

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A large deletion in the CFTR gene in CBAVD

Genetics in medicine, 2006-02, Vol.8 (2), p.93-95

2006

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Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

The Journal of molecular diagnostics : JMD, 2007-09, Vol.9 (4), p.556-560

2007

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Abstract P3-09-15: Value-added clinical tumor/normal whole exome and whole transcriptome sequencing versus a DNA and RNA tumor only gene panel for managing breast cancer

Cancer research (Chicago, Ill.), 2022-02, Vol.82 (4_Supplement), p.P3-P3-09-15

2022

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Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

Journal of pediatric genetics (Birmingham, Ala.), 2012-06, Vol.1 (2), p.115-124

2012

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Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening

Human genetics, 2006-04, Vol.119 (3), p.352-352

2006

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Low Circulating 25-Hydroxyvitamin D Concentrations Are Associated with Defects in Insulin Action and Insulin Secretion in Persons with Prediabetes 1,2

The Journal of nutrition, 2015-04, Vol.145 (4), p.714

2015

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Low Circulating 25-Hydroxyvitamin D Concentrations Are Associated with Defects in Insulin Action and Insulin Secretion in Persons with Prediabetes1, 2

The Journal of nutrition, 2015-04, Vol.145 (4), p.714-719

2015

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Lipoprotein(a) Concentrations, Rosuvastatin Therapy, and Residual Vascular Risk: An Analysis From the JUPITER Trial (Justification for the Use of Statins in Prevention: An Intervention Trial Evaluating Rosuvastatin)

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

OncoKB: A Precision Oncology Knowledge Base

Targeted Next-Generation Sequencing Reveals Exceptionally High Rates of Molecular Driver Mutations in Never-Smokers With Lung Adenocarcinoma

Mutational analysis using next generation sequencing in pediatric thyroid cancer reveals BRAF and fusion oncogenes are common

Low circulating 25-hydroxyvitamin D concentrations are associated with defects in insulin action and insulin secretion in persons with prediabetes

Mutational Analysis in Pediatric Thyroid Cancer and Correlations with Age, Ethnicity, and Clinical Presentation

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion

Relationship Among 25-Hydroxyvitamin D Concentrations, Insulin Action, and Cardiovascular Disease Risk in Patients With Essential Hypertension

Relationship between insulin resistance and amino acids in women and men

Response to Letter Regarding Article, “Lipoprotein(a) Concentrations, Rosuvastatin Therapy, and Residual Vascular Risk: An Analysis From the JUPITER Trial (Justification for the Use of Statins in Prevention: An Intervention Trial Evaluating Rosuvastatin)”

Membrane Association of the Escherichia coli Enterobactin Synthase Proteins EntB/G, EntE, and EntF

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome

Novel and recurrent rearrangements in the CFTR gene : clinical and laboratory implications for cystic fibrosis screening

FMR1 Premutation Carrier Frequency in Patients Undergoing Routine Population-Based Carrier Screening: Insights Into the Prevalence of Fragile X Syndrome, Fragile X-Associated Tremor/Ataxia Syndrome, and Fragile X-Associated Primary Ovarian Insufficiency in the United States

Extensive sequencing of the CFTR gene : lessons learned from the first 157 patient samples

Enterobactin synthase polypeptides of Escherichia coli are present in an osmotic-shock-sensitive cytoplasmic locality

A large deletion in the CFTR gene in CBAVD

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

Abstract P3-09-15: Value-added clinical tumor/normal whole exome and whole transcriptome sequencing versus a DNA and RNA tumor only gene panel for managing breast cancer

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening

Low Circulating 25-Hydroxyvitamin D Concentrations Are Associated with Defects in Insulin Action and Insulin Secretion in Persons with Prediabetes 1,2

Low Circulating 25-Hydroxyvitamin D Concentrations Are Associated with Defects in Insulin Action and Insulin Secretion in Persons with Prediabetes1, 2

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