Lista de obras - Peter K. Rogan - Dominio Público Uruguay

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region

artículo científico publicado en 1994

A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

artículo científico publicado en 1994

A proposed molecular mechanism for pathogenesis of severe RNA-viral pulmonary infections

scientific article published on 07 August 2020

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

artículo científico publicado en 2016

A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.

artículo científico publicado en 2005

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma

artículo científico publicado en 1995

Accurate cytogenetic biodosimetry through automated dicentric chromosome curation and metaphase cell selection

artículo científico publicado en 2017

Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.

artículo científico publicado en 2017

Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome

scientific article published on 01 May 1996

Automated discrimination of dicentric and monocentric chromosomes by machine learning-based image processing.

artículo científico publicado en 2016

Automated splicing mutation analysis by information theory

artículo científico publicado en 2005

Automating dicentric chromosome detection from cytogenetic biodosimetry data

artículo científico publicado en 2014

BIPAD: a web server for modeling bipartite sequence elements.

artículo científico publicado en 2006

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

scientific article published on 24 September 2018

Best Practices for Evaluating Mutation Prediction Methods

artículo científico publicado en 2013

Bipartite pattern discovery by entropy minimization-based multiple local alignment.

artículo científico publicado en 2004

Collaborative, Multidisciplinary Evaluation of Cancer Variants Through Virtual Molecular Tumor Boards Informs Local Clinical Practices

scientific article published on 01 July 2020

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants

artículo científico publicado en 2011

Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome

artículo científico publicado en 1993

Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.

artículo científico

Cost-effectiveness of using a gene expression profiling test to aid in identifying the primary tumour in patients with cancer of unknown primary

artículo científico publicado en 2016

Daytime sleepiness and REM abnormalities in Prader-Willi syndrome: evidence of generalized hypoarousal

artículo científico publicado en 1996

Deeper understanding of unclassified intronic variants and ESEs

artículo científico publicado en 2010

Dendrimer FISH detection of single-copy intervals in acute promyelocytic leukemia.

artículo científico publicado en 2006

Determination of genomic copy number with quantitative microsphere hybridization.

artículo científico publicado en 2006

Development and refinement of pregnane X receptor (PXR) DNA binding site model using information theory: insights into PXR-mediated gene regulation.

artículo científico publicado en 2004

Development of a directory of genetic probes as a shared institutional resource

artículo científico publicado en 1995

Discovery and validation of information theory-based transcription factor and cofactor binding site motifs

artículo científico publicado en 2016

Distinct 15q genotypes in Russell-Silver and ring 15 syndromes

artículo científico publicado en 1996

Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia

artículo científico publicado en 1995

Expanding probe repertoire and improving reproducibility in human genomic hybridization.

artículo científico publicado en 2013

Expedited Radiation Biodosimetry by Automated Dicentric Chromosome Identification (ADCI) and Dose Estimation

artículo científico publicado en 2017

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

artículo científico publicado en 2015

Fish versus aCGH

artículo científico publicado en 2005

Genome-wide prediction, display and refinement of binding sites with information theory-based models

artículo científico publicado en 2003

Genomic signatures for paclitaxel and gemcitabine resistance in breast cancer derived by machine learning

artículo científico publicado en 2015

Hepatic CYP2B6 expression: gender and ethnic differences and relationship to CYP2B6 genotype and CAR (constitutive androstane receptor) expression

artículo científico publicado en 2003

High resolution definition of chromosome abnormalities with probes designed from genome sequences

artículo científico publicado en 2004

Human SP-A locus: allele frequencies and linkage disequilibrium between the two surfactant protein A genes

article

Human SP-A: genotype and single-strand conformation polymorphism analysis

artículo científico publicado en 1994

Hydration in purple membrane as a function of relative humidity

artículo científico publicado en 1981

Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans

artículo científico publicado en 2005

Identification and survival outcomes of a cohort of patients with cancer of unknown primary in Ontario, Canada.

artículo científico publicado en 2015

Information analysis of human splice site mutations ⬇️

artículo científico publicado el 1 de enero de 1998

Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations

artículo científico publicado en 2003

Intensity integrated Laplacian-based thickness measurement for detecting human metaphase chromosome centromere location

artículo científico publicado en 2013

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

artículo científico publicado en 2014

Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences

artículo científico publicado en 2013

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?

artículo científico publicado en 1997

Likely community transmission of COVID-19 infections between neighboring, persistent hotspots in Ontario, Canada

artículo científico publicado en 2021

Localized, non-random differences in chromatin accessibility between homologous metaphase chromosomes

artículo científico publicado en 2014

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

artículo científico publicado en 1999

Maternal uniparental disomy of chromosome 21 in a normal child

scientific article published on 01 March 1999

Meeting radiation dosimetry capacity requirements of population-scale exposures by geostatistical sampling

scientific article published on 24 April 2020

Microsatellite–Centromere Mapping in the Zebrafish (Danio rerio)

scientific article published on 01 November 1995

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

artículo científico publicado en 1996

Mosaicism in Prader-Willi syndrome

artículo científico publicado en 2000

Multigene signatures of responses to chemotherapy derived by biochemically-inspired machine learning

scientific article published on 19 August 2019

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

article

Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns

artículo científico publicado en 1994

Organization of the ABCR gene: analysis of promoter and splice junction sequences

artículo científico publicado en 1998

Pan-cancer repository of validated natural and cryptic mRNA splicing mutations

scientific article published on 07 December 2018

Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning.

artículo científico publicado en 2016

Predicting ionizing radiation exposure using biochemically-inspired genomic machine learning.

artículo científico publicado en 2018

Predicting responses to platin chemotherapy agents with biochemically-inspired machine learning

article

Predicting severity of haemophilia A and B splicing mutations by information analysis

artículo científico publicado en 2006

Prediction of mutant mRNA splice isoforms by information theory-based exon definition

artículo científico publicado en 2013

Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia

artículo científico publicado en 2017

Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations

article

Prioritizing variants in complete Hereditary Breast and Ovarian Cancer (HBOC) genes in patients lacking known BRCA mutations

article

Proceedings of the third international molecular pathological epidemiology (MPE) meeting

artículo científico publicado en 2017

RADIATION DOSE ESTIMATION BY COMPLETELY AUTOMATED INTERPRETATION OF THE DICENTRIC CHROMOSOME ASSAY

scientific article published on 01 December 2019

Racial differences in allelic distribution at the human pulmonary surfactant protein B gene locus (SP-B).

artículo científico publicado en 1996

Radiation Dose Estimation by Automated Cytogenetic Biodosimetry.

artículo científico publicado en 2016

Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G

artículo científico publicado en 2000

Relating centromeric topography in fixed human chromosomes to α-satellite DNA and CENP-B distribution.

artículo científico publicado en 2013

Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome

artículo científico publicado en 1996

Relaxation of imprinting in Prader-Willi syndrome

scientific article published on 01 December 1998

Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada

artículo científico publicado en 1997

Restriction mapping by preferential ligation of adjacent digestion fragments

artículo científico publicado en 1986

Reversing chromatin accessibility differences that distinguish homologous mitotic metaphase chromosomes.

artículo científico publicado en 2015

Sequence-Based, in situ detection of chromosomal abnormalities at high resolution

scientific article published on 01 September 2003

Splice site mutations and atherosclerosis: mechanisms and prediction models

artículo científico publicado en 2001

Splice variants but not mutations of DNA polymerase beta are common in bladder cancer

artículo científico publicado en 2002

Splice-Site Mutations in Atherosclerosis Candidate Genes

article

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes

artículo científico publicado en 2006

Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer

artículo científico publicado en 2014

Structural and genic characterization of stable genomic regions in breast cancer: relevance to chemotherapy.

artículo científico publicado en 2012

Tandem machine learning for the identification of genes regulated by transcription factors.

artículo científico publicado en 2005

The Clinical Significance of Occult Gastrointestinal Primary Tumours in Metastatic Cancer: A Population Retrospective Cohort Study

artículo científico publicado en 2017

The Potential Clinical and Economic Value of Primary Tumour Identification in Metastatic Cancer of Unknown Primary Tumour: A Population-Based Retrospective Matched Cohort Study

artículo científico publicado en 2018

The clinical significance of occult gynecologic primary tumours in metastatic cancer.

artículo científico publicado en 2017

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

artículo científico publicado en 1992

Transcription factor binding site clusters identify target genes with similar tissue-wide expression and buffer against mutations.

artículo científico publicado en 2018

Transmission of mitochondrial DNA heteroplasmy in normal pedigrees ⬇️

artículo científico publicado el 1 de febrero de 1998

Usher syndrome splicing variants evaluated in nasal epithelial cells

artículo científico publicado en 2010

Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites.

artículo científico publicado en 1995

Validation of predicted mRNA splicing mutations using high-throughput transcriptome data

artículo científico publicado en 2014

Lista de obras de Peter K. Rogan

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region

A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

A proposed molecular mechanism for pathogenesis of severe RNA-viral pulmonary infections

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma

Accurate cytogenetic biodosimetry through automated dicentric chromosome curation and metaphase cell selection

Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.

Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome

Automated discrimination of dicentric and monocentric chromosomes by machine learning-based image processing.

Automated splicing mutation analysis by information theory

Automating dicentric chromosome detection from cytogenetic biodosimetry data

BIPAD: a web server for modeling bipartite sequence elements.

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Best Practices for Evaluating Mutation Prediction Methods

Bipartite pattern discovery by entropy minimization-based multiple local alignment.

Collaborative, Multidisciplinary Evaluation of Cancer Variants Through Virtual Molecular Tumor Boards Informs Local Clinical Practices

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants

Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome

Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.

Cost-effectiveness of using a gene expression profiling test to aid in identifying the primary tumour in patients with cancer of unknown primary

Daytime sleepiness and REM abnormalities in Prader-Willi syndrome: evidence of generalized hypoarousal

Deeper understanding of unclassified intronic variants and ESEs

Dendrimer FISH detection of single-copy intervals in acute promyelocytic leukemia.

Determination of genomic copy number with quantitative microsphere hybridization.

Development and refinement of pregnane X receptor (PXR) DNA binding site model using information theory: insights into PXR-mediated gene regulation.

Development of a directory of genetic probes as a shared institutional resource

Discovery and validation of information theory-based transcription factor and cofactor binding site motifs

Distinct 15q genotypes in Russell-Silver and ring 15 syndromes

Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia

Expanding probe repertoire and improving reproducibility in human genomic hybridization.

Expedited Radiation Biodosimetry by Automated Dicentric Chromosome Identification (ADCI) and Dose Estimation

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Fish versus aCGH

Genome-wide prediction, display and refinement of binding sites with information theory-based models

Genomic signatures for paclitaxel and gemcitabine resistance in breast cancer derived by machine learning

Hepatic CYP2B6 expression: gender and ethnic differences and relationship to CYP2B6 genotype and CAR (constitutive androstane receptor) expression

High resolution definition of chromosome abnormalities with probes designed from genome sequences

Human SP-A locus: allele frequencies and linkage disequilibrium between the two surfactant protein A genes

Human SP-A: genotype and single-strand conformation polymorphism analysis

Hydration in purple membrane as a function of relative humidity

Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans

Identification and survival outcomes of a cohort of patients with cancer of unknown primary in Ontario, Canada.

Information analysis of human splice site mutations ⬇️

Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations

Intensity integrated Laplacian-based thickness measurement for detecting human metaphase chromosome centromere location

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?

Likely community transmission of COVID-19 infections between neighboring, persistent hotspots in Ontario, Canada

Localized, non-random differences in chromatin accessibility between homologous metaphase chromosomes

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

Maternal uniparental disomy of chromosome 21 in a normal child

Meeting radiation dosimetry capacity requirements of population-scale exposures by geostatistical sampling

Microsatellite–Centromere Mapping in the Zebrafish (Danio rerio)

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

Mosaicism in Prader-Willi syndrome

Multigene signatures of responses to chemotherapy derived by biochemically-inspired machine learning

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns

Organization of the ABCR gene: analysis of promoter and splice junction sequences

Pan-cancer repository of validated natural and cryptic mRNA splicing mutations

Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning.

Predicting ionizing radiation exposure using biochemically-inspired genomic machine learning.

Predicting responses to platin chemotherapy agents with biochemically-inspired machine learning

Predicting severity of haemophilia A and B splicing mutations by information analysis

Prediction of mutant mRNA splice isoforms by information theory-based exon definition

Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia

Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations

Prioritizing variants in complete Hereditary Breast and Ovarian Cancer (HBOC) genes in patients lacking known BRCA mutations

Proceedings of the third international molecular pathological epidemiology (MPE) meeting

RADIATION DOSE ESTIMATION BY COMPLETELY AUTOMATED INTERPRETATION OF THE DICENTRIC CHROMOSOME ASSAY

Racial differences in allelic distribution at the human pulmonary surfactant protein B gene locus (SP-B).

Radiation Dose Estimation by Automated Cytogenetic Biodosimetry.

Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G

Relating centromeric topography in fixed human chromosomes to α-satellite DNA and CENP-B distribution.

Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome

Relaxation of imprinting in Prader-Willi syndrome

Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada