List of works - Todd E. Scheetz

1274 full-open reading frames of transcripts expressed in the developing mouse nervous system

scientific article

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

scientific article

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

scientific article published on 6 April 2016

A Hyperactive Transposase Promotes Persistent Gene Transfer of a piggyBac DNA Transposon

scientific article

A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)

scientific article

A comprehensive nonredundant expressed sequence tag collection for the developing Rattus norvegicus heart

scientific article

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci

scientific article

A knowledge-based approach to predict intragenic deletions or duplications

scientific article published on 21 July 2008

A modified sleeping beauty transposon system that can be used to model a wide variety of human cancers in mice

scientific article published on 06 October 2009

A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree

scientific article published on 19 January 2018

A parallel/distributed architecture for hierarchically heterogeneous web-based cooperative applications

A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder

scientific article published on 2 August 2016

Advancing genetic testing for deafness with genomic technology

scientific article

An annotated cDNA library of juvenile Euprymna scolopes with and without colonization by the symbiont Vibrio fischeri

scientific article published on 16 June 2006

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Analysis of 14-3-3 isoforms expressed in photoreceptors

scientific article published on 24 February 2018

Analysis of ASB10 variants in open angle glaucoma

scientific article

Anopheles gambiae pilot gene discovery project: identification of mosquito innate immunity genes from expressed sequence tags generated from immune-competent cell lines

scientific article published on June 2000

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

scientific article

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

scientific article published on 19 February 2013

Audioprofile Surfaces: The 21st Century Audiogram

scientific article published on 3 November 2015

Automated Axon Counting in Rodent Optic Nerve Sections with AxonJ.

scientific article published on 26 May 2016

Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration

scientific article published on 25 November 2011

Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape

scientific article

CFTR DeltaF508 mutation has minimal effect on the gene expression profile of differentiated human airway epithelia

scientific article published on 3 June 2005

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

scientific article

Cell of origin strongly influences genetic selection in a mouse model of T-ALL

scientific article published on 9 August 2011

Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina

scientific article

Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism

scientific article published in 2021

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

scientific article published on 27 May 2017

Clonal selection drives genetic divergence of metastatic medulloblastoma

scientific article published on 15 February 2012

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

scientific article published in January 2007

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

scientific article

Computational identification of operon-like transcriptional loci in eukaryotes

scientific article published on 28 March 2013

Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease

scientific article

Congenital myopathy is caused by mutation of HACD1.

scientific article published on 09 August 2013

Construction of a medicinal leech transcriptome database and its application to the identification of leech homologs of neural and innate immune genes

scientific article

Copy number variations and primary open-angle glaucoma

scientific article published on 9 September 2011

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

scientific article

Cordova: web-based management of genetic variation data

scientific article

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

scientific article

Differential effects of cytokines and corticosteroids on toll-like receptor 2 expression and activity in human airway epithelia

scientific article published on 16 October 2009

Differential gene expression in human conducting airway surface epithelia and submucosal glands

scientific article

EST-based gene discovery in pig: virtual expression patterns and comparative mapping to human.

scientific article

ESTprep: preprocessing cDNA sequence reads

scientific article published on 01 July 2003

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His

article

Eukaryotic operon-like transcription of functionally related genes in Drosophila.

scholarly article

Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism

scientific article

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

scientific article

Exon-level expression profiling of ocular tissues

scientific article published on 14 March 2013

Gene expression profiling of potential PPARgamma target genes in mouse aorta

scientific article

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

scientific article

Genome-wide analysis of copy number variants in age-related macular degeneration

scientific article published on 28 October 2010

Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

scientific article

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients ⬇️

scientific article

Genomics-based approaches to gene discovery in innate immunity.

scientific article

Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study

scientific article published on October 2016

Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly

scientific article published on March 2015

High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence.

scientific article published on April 2004

High-throughput gene discovery in the rat.

scientific article published in April 2004

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

scientific article

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

scientific article

IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping

scientific article published on May 2007

Identification of rtl1, a retrotransposon-derived imprinted gene, as a novel driver of hepatocarcinogenesis

scientific article

Identifying components of the NF-kappaB pathway in the beneficial Euprymna scolopes-Vibrio fischeri light organ symbiosis

scientific article published in November 2005

Insights into a dinoflagellate genome through expressed sequence tag analysis

scientific article

Integration site choice of a feline immunodeficiency virus vector

scientific article

Isolation and characterization of autotrophic, hydrogen-utilizing, perchlorate-reducing bacteria

scientific article published on 4 September 2004

Large-scale gene discovery in human airway epithelia reveals novel transcripts

scientific article published on 12 March 2004

Microarray Determination of the Expression of Drug Transporters in Humans and Animal Species Used for the Investigation of Nasal Absorption

scientific article

Microarray mRNA Expression Profiling to Study Cystic Fibrosis

scientific article published on 01 January 2011

Migration of the plastid genome to the nucleus in a peridinin dinoflagellate.

scientific article published in February 2004

Mining biological databases for candidate disease genes

article

Molecular response of chorioretinal endothelial cells to complement injury: implications for macular degeneration

scientific article published on 13 November 2015

Multi-granularity Parallel Computing in a Genome-Scale Molecular Evolution Application

scientific article published on January 2009

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

scientific article

Novel molecular and computational methods improve the accuracy of insertion site analysis in Sleeping Beauty-induced tumors

scientific article

PLET1 (C11orf34), a highly expressed and processed novel gene in pig and mouse placenta, is transcribed but poorly spliced in human

scientific article published on July 2004

Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis

scientific article

Prioritization of retinal disease genes: an integrative approach

scientific article

Prioritizing regions of candidate genes for efficient mutation screening

scientific article published in February 2006

Quantitative measurement of retinal ganglion cell populations via histology-based random forest classification

scientific article published on 13 October 2015

RNA aptamer-based functional ligands of the neurotrophin receptor, TrkB

scientific article

Regulation of gene expression in the mammalian eye and its relevance to eye disease.

scholarly article

RetFM-J, an ImageJ-based module for automated counting and quantifying features of nuclei in retinal whole-mounts

scientific article

SQSTM1 Mutations and Glaucoma.

scientific article

Selection of Phototransduction Genes in Homo sapiens

scientific article published on 13 August 2013

Sequencing methods and datasets to improve functional interpretation of sleeping beauty mutagenesis screens

scientific article

Single-cell RNA sequencing in vision research: Insights into human retinal health and disease

scientific article published on 28 December 2020

Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration

scientific article published on 11 November 2019

Somatic mutagenesis with a Sleeping Beauty transposon system leads to solid tumor formation in zebrafish

scientific article

Stereo Photo Measured ONH Shape Predicts Development of POAG in Subjects With Ocular Hypertension

scientific article published in July 2015

The air-liquid interface and use of primary cell cultures are important to recapitulate the transcriptional profile of in vivo airway epithelia

scientific article

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)

scientific article

Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.

scientific article published in December 2007

Transcriptional patterns in both host and bacterium underlie a daily rhythm of anatomical and metabolic change in a beneficial symbiosis

scientific article

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

scientific article

Transposon mutagenesis identifies candidate genes that cooperate with loss of transforming growth factor-beta signaling in mouse intestinal neoplasms

scientific article published on 28 October 2016

Using the phenome and genome to improve genetic diagnosis for deafness.

scientific article published on 11 July 2012

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

scientific article published on 25 September 2014

Validation of tablet-based evaluation of color fundus images

scientific article

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

scientific article published on January 2011

List of works by Todd E. Scheetz

1274 full-open reading frames of transcripts expressed in the developing mouse nervous system

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

A Hyperactive Transposase Promotes Persistent Gene Transfer of a piggyBac DNA Transposon

A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)

A comprehensive nonredundant expressed sequence tag collection for the developing Rattus norvegicus heart

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci

A knowledge-based approach to predict intragenic deletions or duplications

A modified sleeping beauty transposon system that can be used to model a wide variety of human cancers in mice

A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree

A parallel/distributed architecture for hierarchically heterogeneous web-based cooperative applications

A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder

Advancing genetic testing for deafness with genomic technology

An annotated cDNA library of juvenile Euprymna scolopes with and without colonization by the symbiont Vibrio fischeri

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Analysis of 14-3-3 isoforms expressed in photoreceptors

Analysis of ASB10 variants in open angle glaucoma

Anopheles gambiae pilot gene discovery project: identification of mosquito innate immunity genes from expressed sequence tags generated from immune-competent cell lines

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

Audioprofile Surfaces: The 21st Century Audiogram

Automated Axon Counting in Rodent Optic Nerve Sections with AxonJ.

Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration

Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape

CFTR DeltaF508 mutation has minimal effect on the gene expression profile of differentiated human airway epithelia

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

Cell of origin strongly influences genetic selection in a mouse model of T-ALL

Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina

Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Clonal selection drives genetic divergence of metastatic medulloblastoma

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Computational identification of operon-like transcriptional loci in eukaryotes

Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease

Congenital myopathy is caused by mutation of HACD1.

Construction of a medicinal leech transcriptome database and its application to the identification of leech homologs of neural and innate immune genes

Copy number variations and primary open-angle glaucoma

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

Cordova: web-based management of genetic variation data

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Differential effects of cytokines and corticosteroids on toll-like receptor 2 expression and activity in human airway epithelia

Differential gene expression in human conducting airway surface epithelia and submucosal glands

EST-based gene discovery in pig: virtual expression patterns and comparative mapping to human.

ESTprep: preprocessing cDNA sequence reads

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His

Eukaryotic operon-like transcription of functionally related genes in Drosophila.

Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

Exon-level expression profiling of ocular tissues

Gene expression profiling of potential PPARgamma target genes in mouse aorta

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Genome-wide analysis of copy number variants in age-related macular degeneration

Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients ⬇️

Genomics-based approaches to gene discovery in innate immunity.

Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study

Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly

High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence.

High-throughput gene discovery in the rat.

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping

Identification of rtl1, a retrotransposon-derived imprinted gene, as a novel driver of hepatocarcinogenesis

Identifying components of the NF-kappaB pathway in the beneficial Euprymna scolopes-Vibrio fischeri light organ symbiosis

Insights into a dinoflagellate genome through expressed sequence tag analysis

Integration site choice of a feline immunodeficiency virus vector

Isolation and characterization of autotrophic, hydrogen-utilizing, perchlorate-reducing bacteria

Large-scale gene discovery in human airway epithelia reveals novel transcripts

Microarray Determination of the Expression of Drug Transporters in Humans and Animal Species Used for the Investigation of Nasal Absorption

Microarray mRNA Expression Profiling to Study Cystic Fibrosis

Migration of the plastid genome to the nucleus in a peridinin dinoflagellate.

Mining biological databases for candidate disease genes

Molecular response of chorioretinal endothelial cells to complement injury: implications for macular degeneration

Multi-granularity Parallel Computing in a Genome-Scale Molecular Evolution Application

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Novel molecular and computational methods improve the accuracy of insertion site analysis in Sleeping Beauty-induced tumors

PLET1 (C11orf34), a highly expressed and processed novel gene in pig and mouse placenta, is transcribed but poorly spliced in human

Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis