Lista de obras - Chad Shaw - Dominio Público Uruguay

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

artículo científico publicado en 2008

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

artículo científico publicado en 2008

A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis

artículo científico publicado en 2012

A cell-adhesion pathway regulates intercellular communication during Dictyostelium development

artículo científico publicado en 2003

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

artículo científico publicado en 2012

A joint modeling approach for longitudinal microbiome data improves ability to detect microbiome associations with disease

scientific article published on 14 December 2020

A novel developmental mechanism in Dictyostelium revealed in a screen for communication mutants

artículo científico publicado en 2003

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

artículo científico publicado en 2006

A renewable tissue resource of phenotypically stable, biologically and ethnically diverse, patient-derived human breast cancer xenograft models

artículo científico publicado en 2013

Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase

artículo científico publicado en 2011

Activin signaling: effects on body composition and mitochondrial energy metabolism

scientific article published on 23 April 2009

Aging hematopoietic stem cells decline in function and exhibit epigenetic dysregulation

artículo científico publicado en 2007

An Accurate, Sensitive, and Scalable Method to Identify Functional Sites in Protein Structures

artículo científico publicado en 2003

An orderly retreat: Dedifferentiation is a regulated process

artículo científico publicado en 2004

Anti-miR-148a regulates platelet FcγRIIA signaling and decreases thrombosis in vivo in mice

artículo científico publicado en 2015

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

artículo científico publicado en 2012

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

artículo científico publicado en 2012

Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

artículo científico publicado en 2009

Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics ⬇️

artículo científico publicado el 19 de agosto de 2010

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

article

Association of nasopharyngeal microbiota profiles with bronchiolitis severity in infants hospitalised for bronchiolitis

artículo científico publicado en 2016

Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery

scientific journal article

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

artículo científico publicado en 2008

Bayesian modelling of high-throughput sequencing assays with malacoda

artículo científico publicado en 2020

Brachy-syndactyly caused by loss of Sfrp2 function

artículo científico publicado en 2008

CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome

artículo científico publicado en 2014

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

artículo científico publicado en 2007

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

artículo científico publicado en 2007

Circadian rhythms in myocardial metabolism and contractile function: influence of workload and oleate

article

Circulating and disseminated tumor cells from breast cancer patient-derived xenograft-bearing mice as a novel model to study metastasis

artículo científico publicado en 2015

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

artículo científico publicado en 2007

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

artículo científico publicado en 2009

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

artículo científico publicado en 2013

Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia ⬇️

artículo científico publicado en 2011

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

artículo científico publicado en 2012

Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells

artículo científico publicado en 2016

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

scientific article published on 26 March 2009

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

artículo científico publicado en 2013

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia

artículo científico publicado en 2005

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

artículo científico publicado en 2016

Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome

artículo científico publicado en 2012

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

artículo científico publicado en 2015

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

artículo científico publicado en 2013

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

artículo científico publicado en 2005

Detection of clinically relevant exonic copy-number changes by array CGH.

artículo científico publicado en 2010

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

artículo científico publicado en 2012

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

article

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

artículo científico publicado en 2003

Disruption of the circadian clock within the cardiomyocyte influences myocardial contractile function, metabolism, and gene expression.

artículo científico publicado en 2007

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

artículo científico publicado en 2009

ERRATUM

scholarly article published in Genetics in Medicine

Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans

artículo científico publicado en 2011

Evidence for diversity in transcriptional profiles of single hematopoietic stem cells

artículo científico publicado en 2006

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

artículo científico publicado en 2006

Exact sampling formulas for multi-type Galton-Watson processes

artículo científico publicado en 2002

Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua

artículo científico publicado en 2011

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

artículo científico publicado en 2013

Gene expression in Barrett's esophagus: laser capture versus whole tissue

artículo científico publicado en 2009

Genome-wide association study of platelet aggregation in African Americans

artículo científico publicado en 2015

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

artículo científico publicado en 2012

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

artículo científico publicado en 2008

Global gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks

artículo científico publicado en 2013

Hematopoietic fingerprints: an expression database of stem cells and their progeny

artículo científico publicado en 2007

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

artículo científico publicado en 2011

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

artículo científico publicado en 2006

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

artículo científico publicado en 2016

Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress

artículo científico publicado en 2012

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases

artículo científico publicado en 2008

Identification of de novo copy number variants associated with human disorders of sexual development

artículo científico publicado en 2010

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations

artículo científico publicado en 2007

Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder

artículo científico publicado en 2015

Immediate early genes of glucocorticoid action on the developing intestine.

artículo científico

Incidental copy-number variants identified by routine genome testing in a clinical population

artículo científico publicado en 2012

Increased Moraxella and Streptococcus species abundance after severe bronchiolitis is associated with recurrent wheezing

artículo científico publicado en 2019

Induction of the HIV-1 Tat co-factor cyclin T1 during monocyte differentiation is required for the regulated expression of a large portion of cellular mRNAs.

artículo científico

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

artículo científico publicado en 2010

Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease

artículo científico publicado en 2012

Integrative genomic analysis of the human immune response to influenza vaccination

artículo científico publicado en 2013

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

artículo científico publicado en 2019

Is genomic evaluation feasible in endoscopic studies of Barrett's esophagus? A pilot study

artículo científico publicado en 2006

Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model

artículo científico publicado en 2007

Low-level mosaicism of trisomy 14: phenotypic and molecular characterization

artículo científico publicado en 2008

MeCP2, a key contributor to neurological disease, activates and represses transcription

artículo científico publicado en 2008

MicroRNAs in platelet production and activation.

artículo científico publicado en 2013

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

article

Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA

artículo científico publicado en 2009

Molecular signatures of proliferation and quiescence in hematopoietic stem cells

artículo científico publicado en 2004

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions

artículo científico publicado en 2003

Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes

artículo científico publicado en 2008

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

artículo científico publicado en 2009

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

artículo científico publicado en 2011

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

artículo científico publicado en 2013

Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.

artículo científico publicado en 2013

Novel microRNA candidates and miRNA-mRNA pairs in embryonic stem (ES) cells

artículo científico publicado en 2008

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

artículo científico publicado en 2011

Olfactory copy number association with age at onset of Alzheimer disease

artículo científico publicado en 2011

OntologyTraverser: an R package for GO analysis.

artículo científico

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

artículo científico publicado en 2007

Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis

scientific journal article

Pathway-centric integrative analysis identifies RRM2 as a prognostic marker in breast cancer associated with poor survival and tamoxifen resistance

artículo científico publicado en 2014

Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity.

artículo científico publicado en 2011

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.

artículo científico

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

artículo científico publicado en 2006

Proinflammatory role for let-7 microRNAS in experimental asthma

artículo científico publicado en 2010

Protein interactome reveals converging molecular pathways among autism disorders

artículo científico publicado en 2011

RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1

artículo científico publicado en 2013

Racial differences in human platelet PAR4 reactivity reflect expression of PCTP and miR-376c

artículo científico publicado en 2013

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

artículo científico publicado en 2012

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

artículo científico publicado en 2011

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

artículo científico publicado en 2010

Regulatory pathway analysis by high-throughput in situ hybridization

artículo científico publicado en 2007

Respiratory syncytial virus and rhinovirus severe bronchiolitis are associated with distinct nasopharyngeal microbiota

artículo científico publicado en 2016

Retroviral vector insertion sites associated with dominant hematopoietic clones mark "stemness" pathways

artículo científico publicado en 2006

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

scientific article published on 14 June 2006

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

artículo científico publicado en 2013

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

artículo científico publicado en 2004

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

artículo científico publicado en 2014

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

artículo científico publicado en 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

TagA, a putative serine protease/ABC transporter of Dictyostelium that is required for cell fate determination at the onset of development

artículo científico publicado en 2003

The Hematopoietic Expression Viewer: expanding mobile apps as a scientific tool

artículo científico

The association between anterior nares and nasopharyngeal microbiota in infants hospitalized for bronchiolitis

artículo científico publicado en 2018

The circadian clock within the cardiomyocyte is essential for responsiveness of the heart to fatty acids.

artículo científico publicado en 2006

The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7

scientific journal article

The intrinsic circadian clock within the cardiomyocyte

artículo científico publicado en 2005

The scene of a frozen accident

artículo científico publicado en 2000

Theoretical consideration of amplification strategies

article

Transcriptional profiling of mammary gland side population cells

artículo científico publicado en 2005

Transcriptional transitions during Dictyostelium spore germination

artículo científico publicado en 2004

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

artículo científico publicado en 2017

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

artículo científico publicado en 2011

VAMP8/endobrevin is overexpressed in hyperreactive human platelets: suggested role for platelet microRNA

artículo científico publicado en 2010

Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia

scholarly article by Ankita Patel et al published July 2008 in American Journal of Hematology

Lista de obras de Chad Shaw

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis

A cell-adhesion pathway regulates intercellular communication during Dictyostelium development

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

A joint modeling approach for longitudinal microbiome data improves ability to detect microbiome associations with disease

A novel developmental mechanism in Dictyostelium revealed in a screen for communication mutants

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

A renewable tissue resource of phenotypically stable, biologically and ethnically diverse, patient-derived human breast cancer xenograft models

Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase

Activin signaling: effects on body composition and mitochondrial energy metabolism

Aging hematopoietic stem cells decline in function and exhibit epigenetic dysregulation

An Accurate, Sensitive, and Scalable Method to Identify Functional Sites in Protein Structures

An orderly retreat: Dedifferentiation is a regulated process

Anti-miR-148a regulates platelet FcγRIIA signaling and decreases thrombosis in vivo in mice

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics ⬇️

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

Association of nasopharyngeal microbiota profiles with bronchiolitis severity in infants hospitalised for bronchiolitis

Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

Bayesian modelling of high-throughput sequencing assays with malacoda

Brachy-syndactyly caused by loss of Sfrp2 function

CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

Circadian rhythms in myocardial metabolism and contractile function: influence of workload and oleate

Circulating and disseminated tumor cells from breast cancer patient-derived xenograft-bearing mice as a novel model to study metastasis

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia ⬇️

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

Detection of clinically relevant exonic copy-number changes by array CGH.

Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

Disruption of the circadian clock within the cardiomyocyte influences myocardial contractile function, metabolism, and gene expression.

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

ERRATUM

Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans

Evidence for diversity in transcriptional profiles of single hematopoietic stem cells

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

Exact sampling formulas for multi-type Galton-Watson processes

Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

Gene expression in Barrett's esophagus: laser capture versus whole tissue

Genome-wide association study of platelet aggregation in African Americans

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

Global gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks

Hematopoietic fingerprints: an expression database of stem cells and their progeny

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases

Identification of de novo copy number variants associated with human disorders of sexual development

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations

Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder

Immediate early genes of glucocorticoid action on the developing intestine.

Incidental copy-number variants identified by routine genome testing in a clinical population

Increased Moraxella and Streptococcus species abundance after severe bronchiolitis is associated with recurrent wheezing

Induction of the HIV-1 Tat co-factor cyclin T1 during monocyte differentiation is required for the regulated expression of a large portion of cellular mRNAs.

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease

Integrative genomic analysis of the human immune response to influenza vaccination