Lista de obras -

"Big Data" in Laboratory Medicine.

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

A sequence-based variation map of zebrafish

artículo científico publicado en 2013

AMOD: a morpholino oligonucleotide selection tool

artículo científico publicado en 2005

Antiangiogenic Effects and Therapeutic Targets ofAzadirachta indicaLeaf Extract in Endothelial Cells ⬇️

artículo científico publicado el 22 de febrero de 2012

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

artículo científico publicado en 2022

Bioinformatics for clinical next generation sequencing

artículo científico publicado en 2015

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

artículo científico publicado en 2021

Candidate Serum Biomarkers for Prostate Adenocarcinoma Identified by mRNA Differences in Prostate Tissue and Verified with Protein Measurements in Tissue and Blood ⬇️

artículo científico publicado el 12 de enero de 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Clinical spectrum of STX1B-related epileptic disorders.

artículo científico publicado en 2019

Computational classification of classically secreted proteins

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2019

Evaluating eukaryotic secreted protein prediction

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder

scientific article published on 12 September 2020

Identification of prognostic biomarkers for prostate cancer

artículo científico publicado en 2008

Impact of RNA degradation on fusion detection by RNA-seq

artículo científico publicado en 2016

Impact of integrated translational research on clinical exome sequencing

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Novel Molecular Targets of Azadirachta indica Associated with Inhibition of Tumor Growth in Prostate Cancer ⬇️

artículo científico publicado el 11 de mayo de 2011

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Zebrafish for the Study of the Biological Effects of Nicotine ⬇️

artículo científico publicado el 8 de marzo de 2011

Lista de obras de

"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 ofAzadirachta indicaLeaf 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 Molecular Targets of Azadirachta indica Associated with Inhibition of Tumor Growth in Prostate Cancer ⬇️

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

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 ⬇️