List of works - Chad Shaw

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

scientific article published on 23 September 2008

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

scientific article

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

scientific article

A cell-adhesion pathway regulates intercellular communication during Dictyostelium development

scientific article published in December 2003

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

scientific article

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

scientific article published in July 2003

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

scientific article

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

scientific article published on 04 June 2013

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

scientific article

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

scientific article

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

scientific article published on 01 February 2003

An orderly retreat: Dedifferentiation is a regulated process

scientific article

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

scientific article

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

scientific article published on 23 July 2012

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

scientific article published on 3 October 2012

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

scientific article

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

scientific article published on August 19, 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

scientific article

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

scientific article published on April 2008

Bayesian modelling of high-throughput sequencing assays with malacoda

scientific article published on 21 July 2020

Brachy-syndactyly caused by loss of Sfrp2 function

scientific article published on October 2008

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

scientific article

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

scientific article

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

scientific article published in June 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

scientific article

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

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

scientific article

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

scientific article published on January 2009

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

scientific article published on 22 May 2013

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

scientific article

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

scientific article published on 13 December 2012

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

scientific article published on 2 July 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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 14 June 2015

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

scientific article published on 16 May 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 15 July 2003

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

scientific article published on 21 December 2007

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

scientific article published on 19 February 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

scientific article

Evidence for diversity in transcriptional profiles of single hematopoietic stem cells

scientific article published on 9 August 2006

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

scientific article published on 22 June 2006

Exact sampling formulas for multi-type Galton-Watson processes

scientific article published in October 2002

Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua

scientific article published on November 2011

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

scientific article (publication date: 2013)

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

scientific article

Genome-wide association study of platelet aggregation in African Americans

scientific article published on 30 May 2015

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

scientific article

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

scientific article published on December 2008

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

scientific article published in February 2013

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in September 2008

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

scientific article

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

scientific article published on 23 May 2007

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

scientific article

Immediate early genes of glucocorticoid action on the developing intestine.

scientific article published on May 2005

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

scientific article published on 09 August 2012

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

scientific article published on 15 November 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.

scientific article published on 09 June 2006

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

scientific article published in May 2010

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

scientific article published on 20 November 2012

Integrative genomic analysis of the human immune response to influenza vaccination

scientific article published on 16 July 2013

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

scientific article published on 23 April 2019

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

scientific article published on 01 July 2006

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

scientific article

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

scientific article published in June 2008

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

scientific article

MicroRNAs in platelet production and activation.

scientific article published on June 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

scientific article published on 26 March 2009

Molecular signatures of proliferation and quiescence in hematopoietic stem cells

scientific article

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

scientific article published on 15 July 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

scientific article

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

scientific article published on 15 April 2009

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

scientific article (publication date: June 2011)

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

scientific article published on 08 May 2013

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

scientific article

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

scientific article

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

scientific article

Olfactory copy number association with age at onset of Alzheimer disease

scientific article

OntologyTraverser: an R package for GO analysis.

scientific article published on 27 August 2004

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

scientific article

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

scientific article

Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity.

scientific article

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

scientific article published on April 2012

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

scientific article published on 01 November 2006

Proinflammatory role for let-7 microRNAS in experimental asthma

scientific article

Protein interactome reveals converging molecular pathways among autism disorders

scientific article

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

scientific article

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

scientific article

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

scientific article published on 29 August 2012

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

scientific article published on 2 November 2011

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

scientific article

Regulatory pathway analysis by high-throughput in situ hybridization

scientific article

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

scientific article published on 06 April 2016

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

scientific article published on 21 November 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.

scientific article published on 5 August 2013

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

scientific article published on 20 April 2004

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

scientific article

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

scientific article published in August 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

scientific article

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

scientific article published on 09 May 2012

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

scientific article published on 3 January 2018

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

scientific article published on 22 June 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

scientific article published on 3 June 2005

The scene of a frozen accident

scientific article published on April 2000

Theoretical consideration of amplification strategies

article

Transcriptional profiling of mammary gland side population cells

scientific article published on 10 November 2005

Transcriptional transitions during Dictyostelium spore germination

scientific article published on October 2004

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

scientific article

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

scientific article

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

scientific article

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

List of works by 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