Lista de obras -

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency

scientific article published on 08 May 2020

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

artículo científico publicado en 2020

A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H ⬇️

artículo científico publicado el 4 de marzo de 2011

A promoter-level mammalian expression atlas

artículo científico publicado en 2014

A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

artículo científico publicado en 2010

A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing

scientific article published on 22 November 2019

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

artículo científico publicado en 2002

Analysis of the mouse transcriptome for genes involved in the function of the nervous system.

artículo científico publicado en 2003

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

artículo científico publicado en 2017

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

artículo científico publicado en 2016

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

artículo científico publicado en 2015

Comprehensive analysis of the mouse metabolome based on the transcriptome

artículo científico

Continued discovery of transcriptional units expressed in cells of the mouse mononuclear phagocyte lineage

artículo científico publicado en 2003

Current progress in the prediction of chemosensitivity for breast cancer

artículo científico publicado en 2004

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Detection of genes with tissue-specific expression patterns using Akaike's information criterion procedure

artículo científico publicado en 2003

Development and evaluation of an automated annotation pipeline and cDNA annotation system

artículo científico publicado en 2003

Discovery of imprinted transcripts in the mouse transcriptome using large-scale expression profiling

artículo científico publicado en 2003

Drift effects and the cosmic ray density gradient in a solar rotation period: first observation with the global muon detector network (GMDN) ⬇️

scholarly article

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

scientific article published on 22 July 2019

Exploration of novel motifs derived from mouse cDNA sequences

artículo científico publicado en 2002

FANTOM5 CAGE profiles of human and mouse samples

artículo científico

Fam57b (Family with Sequence Similarity 57, Member B), a Novel Peroxisome Proliferator-activated Receptor γ Target Gene That Regulates Adipogenesis through Ceramide Synthesis ⬇️

artículo científico publicado el 28 de diciembre de 2012

Functional annotation of human long noncoding RNAs via molecular phenotyping

artículo científico publicado en 2020

Gene discovery in genetically labeled single dopaminergic neurons of the retina

scholarly article

Gene expression profile of normal lungs predicts genetic predisposition to lung cancer in mice.

artículo científico publicado en 2003

Genetic control of the innate immune response

artículo científico publicado en 2003

Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.

artículo científico publicado en 2007

Identification of genes regulating colorectal carcinogenesis by using the algorithm for diagnosing malignant state method

artículo científico publicado en 2002

Inferring alternative splicing patterns in mouse from a full-length cDNA library and microarray data

artículo científico publicado en 2002

Initial sequencing and comparative analysis of the mouse genome

artículo científico publicado en 2002

Integrative annotation of 21,037 human genes validated by full-length cDNA clones

artículo científico publicado en 2004

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

artículo científico publicado en 2018

Molecular analysis of gene expression in the developing pontocerebellar projection system

artículo científico publicado en 2002

Multiple tissue-specific promoters control expression of the murine tartrate-resistant acid phosphatase gene

artículo científico publicado en 2003

Murine osteoclasts secrete serine protease HtrA1 capable of degrading osteoprotegerin in the bone microenvironment

artículo científico publicado en 2019

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples

artículo científico publicado en 2019

Predicted mouse peroxisome-targeted proteins and their actual subcellular locations

scientific journal article

Prognostic phenotypic and genotypic factors associated with photodynamic therapy response in patients with age-related macular degeneration

artículo científico publicado en 2014

Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases

scientific article published on 21 November 2018

Reply to the "Letter to the Editor" from Dr. J Finsterer and colleagues

scientific article published on 21 February 2019

Restriction landmark genome scanning

article published in 2011

Sirt1, p53, and p38 MAPK Are Crucial Regulators of Detrimental Phenotypes of Embryonic Stem Cells with Max Expression Ablation ⬇️

artículo científico publicado el 1 de agosto de 2012

Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila

scientific article published on 15 April 2020

Systematic expression profiling of the mouse transcriptome using RIKEN cDNA microarrays

artículo científico

Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia

artículo científico publicado en 2003

The mouse secretome: functional classification of the proteins secreted into the extracellular environment

artículo científico publicado en 2003

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

artículo científico publicado en 2009

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells

artículo científico publicado en 2015

Lista de obras de

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H ⬇️

A promoter-level mammalian expression atlas

A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

Analysis of the mouse transcriptome for genes involved in the function of the nervous system.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Comprehensive analysis of the mouse metabolome based on the transcriptome

Continued discovery of transcriptional units expressed in cells of the mouse mononuclear phagocyte lineage

Current progress in the prediction of chemosensitivity for breast cancer

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Detection of genes with tissue-specific expression patterns using Akaike's information criterion procedure

Development and evaluation of an automated annotation pipeline and cDNA annotation system

Discovery of imprinted transcripts in the mouse transcriptome using large-scale expression profiling

Drift effects and the cosmic ray density gradient in a solar rotation period: first observation with the global muon detector network (GMDN) ⬇️

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

Exploration of novel motifs derived from mouse cDNA sequences

FANTOM5 CAGE profiles of human and mouse samples

Fam57b (Family with Sequence Similarity 57, Member B), a Novel Peroxisome Proliferator-activated Receptor γ Target Gene That Regulates Adipogenesis through Ceramide Synthesis ⬇️

Functional annotation of human long noncoding RNAs via molecular phenotyping

Gene discovery in genetically labeled single dopaminergic neurons of the retina

Gene expression profile of normal lungs predicts genetic predisposition to lung cancer in mice.

Genetic control of the innate immune response

Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.

Identification of genes regulating colorectal carcinogenesis by using the algorithm for diagnosing malignant state method

Inferring alternative splicing patterns in mouse from a full-length cDNA library and microarray data

Initial sequencing and comparative analysis of the mouse genome

Integrative annotation of 21,037 human genes validated by full-length cDNA clones

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Molecular analysis of gene expression in the developing pontocerebellar projection system

Multiple tissue-specific promoters control expression of the murine tartrate-resistant acid phosphatase gene

Murine osteoclasts secrete serine protease HtrA1 capable of degrading osteoprotegerin in the bone microenvironment

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples

Predicted mouse peroxisome-targeted proteins and their actual subcellular locations

Prognostic phenotypic and genotypic factors associated with photodynamic therapy response in patients with age-related macular degeneration

Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases

Reply to the "Letter to the Editor" from Dr. J Finsterer and colleagues

Restriction landmark genome scanning

Sirt1, p53, and p38 MAPK Are Crucial Regulators of Detrimental Phenotypes of Embryonic Stem Cells with Max Expression Ablation ⬇️

Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila

Systematic expression profiling of the mouse transcriptome using RIKEN cDNA microarrays

Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia

The mouse secretome: functional classification of the proteins secreted into the extracellular environment

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells