List of works - Eric W Klee

"Big Data" in Laboratory Medicine.

scientific article

3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer

scientific article

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

scientific article

A sequence-based variation map of zebrafish

scientific article published on March 2013

AMOD: a morpholino oligonucleotide selection tool

scientific article

Antiangiogenic Effects and Therapeutic Targets of Azadirachta indica Leaf Extract in Endothelial Cells

scientific article published on 22 February 2012

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>

scientific article published on 28 February 2022

Bioinformatics for clinical next generation sequencing

scientific article

COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation

scientific article published on 28 September 2021

Candidate serum biomarkers for prostate adenocarcinoma identified by mRNA differences in prostate tissue and verified with protein measurements in tissue and blood

scientific article

Challenges in translating plasma proteomics from bench to bedside: update from the NHLBI Clinical Proteomics Programs.

scientific article published on 2 May 2008

Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.

scientific article

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

Computational classification of classically secreted proteins

scientific article published on 9 February 2007

Data mining for biomarker development: a review of tissue specificity analysis

scientific article

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

Evaluating eukaryotic secreted protein prediction

scientific article

Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics.

scientific article

Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery.

scientific article

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

scientific article published on 13 June 2022

Gene panel model predictive of outcome in men at high-risk of systemic progression and death from prostate cancer after radical retropubic prostatectomy

scientific article

Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome

scientific article

Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder

scientific article published on 12 September 2020

Identification of prognostic biomarkers for prostate cancer

scientific article

Impact of RNA degradation on fusion detection by RNA-seq

scientific article

Impact of integrated translational research on clinical exome sequencing

scientific article published on 04 November 2020

Impact of integrated translational research on clinical exome sequencing

scientific article published in 2023

Impact of sample acquisition and linear amplification on gene expression profiling of lung adenocarcinoma: laser capture micro-dissection cell-sampling versus bulk tissue-sampling

scientific article

Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma

scientific article

Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment

scientific article

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

scientific article

Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels

scientific article

Meta-analysis of oncogenic protein kinase Ciota signaling in lung adenocarcinoma

scientific article published on 17 February 2009

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

scientific article

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

scientific article published on 28 September 2017

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

scientific article

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

scientific article

Novel molecular targets of Azadirachta indica associated with inhibition of tumor growth in prostate cancer

scientific article

Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade

scientific article published on 3 March 2016

Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol

scientific article

Proceedings of the 15th Annual UT-KBRIN Bioinformatics Summit 2016

scientific article (publication date: August 2016)

RNA sequencing shows transcriptomic changes in rectosigmoid mucosa in patients with irritable bowel syndrome-diarrhea: a pilot case-control study

scientific article

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

scientific article published on 10 January 2019

TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data

scientific article (publication date: 15 January 2012)

The Zebrafish GenomeWiki: a crowdsourcing approach to connect the long tail for zebrafish gene annotation

scientific article (publication date: 2014)

Varenicline for smoking cessation: efficacy, safety, and treatment recommendations

scientific article

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

scientific article

Zebrafish for the study of the biological effects of nicotine

scientific article

List of works by Eric W Klee

"Big Data" in Laboratory Medicine.

3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

A sequence-based variation map of zebrafish

AMOD: a morpholino oligonucleotide selection tool

Antiangiogenic Effects and Therapeutic Targets of Azadirachta indica Leaf Extract in Endothelial Cells

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>

Bioinformatics for clinical next generation sequencing

COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation

Candidate serum biomarkers for prostate adenocarcinoma identified by mRNA differences in prostate tissue and verified with protein measurements in tissue and blood

Challenges in translating plasma proteomics from bench to bedside: update from the NHLBI Clinical Proteomics Programs.

Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.

Clinical spectrum of STX1B-related epileptic disorders.

Computational classification of classically secreted proteins

Data mining for biomarker development: a review of tissue specificity analysis

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Evaluating eukaryotic secreted protein prediction

Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics.

Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Gene panel model predictive of outcome in men at high-risk of systemic progression and death from prostate cancer after radical retropubic prostatectomy

Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome

Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder

Identification of prognostic biomarkers for prostate cancer

Impact of RNA degradation on fusion detection by RNA-seq

Impact of integrated translational research on clinical exome sequencing

Impact of integrated translational research on clinical exome sequencing

Impact of sample acquisition and linear amplification on gene expression profiling of lung adenocarcinoma: laser capture micro-dissection cell-sampling versus bulk tissue-sampling

Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma

Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels

Meta-analysis of oncogenic protein kinase Ciota signaling in lung adenocarcinoma

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Novel molecular targets of Azadirachta indica associated with inhibition of tumor growth in prostate cancer

Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade

Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol

Proceedings of the 15th Annual UT-KBRIN Bioinformatics Summit 2016

RNA sequencing shows transcriptomic changes in rectosigmoid mucosa in patients with irritable bowel syndrome-diarrhea: a pilot case-control study

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data

The Zebrafish GenomeWiki: a crowdsourcing approach to connect the long tail for zebrafish gene annotation

Varenicline for smoking cessation: efficacy, safety, and treatment recommendations

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Zebrafish for the study of the biological effects of nicotine