Lista de obras - Peter White - Dominio Público Uruguay

A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes

artículo científico publicado en 2021

A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent TB Infection

artículo científico publicado en 2017

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome

artículo científico publicado en 2018

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

artículo científico publicado en 2016

A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia

artículo científico publicado en 2017

AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Apoptosis rate and transcriptional response of pancreatic islets exposed to the PPAR gamma agonist Pioglitazone ⬇️

artículo científico publicado el 8 de enero de 2013

Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease

artículo científico publicado en 2015

Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice

artículo científico publicado en 2015

CREB-mediated alterations in the amygdala transcriptome: coordinated regulation of immune response genes following cocaine

artículo científico publicado en 2010

ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa

scientific journal article

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics

artículo científico publicado en 2015

Control of pancreatic β cell regeneration by glucose metabolism.

artículo científico publicado en 2011

Defining the role of pneumococcal neuraminidases and O-glycosidase in pneumococcal haemolytic uraemic syndrome

artículo científico publicado en 2016

Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans

artículo científico publicado en 2017

Discovery of clinically relevant fusions in pediatric cancer

artículo científico publicado en 2021

Disease-Associated Mosaic Variation in Clinical Exome Sequencing: A Two Year Pediatric Tertiary Care Experience

scientific article published on 05 May 2020

EF-P dependent pauses integrate proximal and distal signals during translation

artículo científico publicado en 2014

Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma

artículo científico publicado en 2021

Evidence of pioneer factor activity of an oncogenic fusion transcription factor

artículo científico publicado en 2021

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

scientific article published on 10 June 2019

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

scientific article published on 05 July 2019

Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine

artículo científico publicado en 2014

Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.

artículo científico publicado en 2006

Gene Expression Analysis in Diabetes Research

article

Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis

artículo científico publicado en 2015

Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma

artículo científico publicado en 2018

HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae

artículo científico publicado en 2014

Human Bile-Mediated Regulation of Salmonella Curli Fimbriae

artículo científico publicado en 2019

Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism.

artículo científico publicado en 2017

In-frame de novo mutation in in two patients with muscular atrophy and arthrogryposis

artículo científico publicado en 2018

Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib

artículo científico publicado en 2020

Intrauterine growth restriction is a direct consequence of localized maternal uropathogenic Escherichia coli cystitis

artículo científico publicado en 2012

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

scientific article published on 26 May 2020

Nutrition-hormone receptor-gene interactions: implications for development and disease

artículo científico publicado en 2001

Pancreatic beta cells require NeuroD to achieve and maintain functional maturity

artículo científico publicado en 2010

Pathoadaptive Alteration of Salmonella Biofilm Formation in Response to the Gallbladder Environment

scientific article published on 21 June 2019

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Phagosome-regulated mTOR Signalling during Sarcoidosis Granuloma Biogenesis

scientific article published on 17 September 2020

Phosphatidylinositol 3-kinase (PI3K) signaling via glycogen synthase kinase-3 (Gsk-3) regulates DNA methylation of imprinted loci

scientific journal article

Profiling the miRNome: Detecting Global miRNA Expression Levels with DNA Microarrays

Publisher Correction: Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function

artículo científico publicado en 2020

Reprioritization of biofilm metabolism is associated with nutrient adaptation and long-term survival of Haemophilus influenzae

scientific article published on 05 November 2019

Safety Profile of Good Manufacturing Practice Manufactured Interferon γ-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials.

artículo científico publicado en 2017

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads

scientific article published on 29 May 2019

Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue

artículo científico publicado en 2020

The nucleosome map of the mammalian liver

artículo científico publicado en 2011

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

artículo científico publicado en 2014

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.

artículo científico

Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function

artículo científico publicado en 2019

Whole-blood transcriptomic responses to lumacaftor/ivacaftor therapy in cystic fibrosis

scientific article published on 29 August 2019

Lista de obras de Peter White

A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes

A Novel In Vitro Human Granuloma Model of Sarcoidosis and Latent TB Infection

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia

AR-13, a Celecoxib Derivative, Directly Kills Francisella In Vitro and Aids Clearance and Mouse Survival In Vivo

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

Apoptosis rate and transcriptional response of pancreatic islets exposed to the PPAR gamma agonist Pioglitazone ⬇️

Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease

Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice

CREB-mediated alterations in the amygdala transcriptome: coordinated regulation of immune response genes following cocaine

ChIP-Seq and RNA-Seq reveal an AmrZ-mediated mechanism for cyclic di-GMP synthesis and biofilm development by Pseudomonas aeruginosa

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics

Control of pancreatic β cell regeneration by glucose metabolism.

Defining the role of pneumococcal neuraminidases and O-glycosidase in pneumococcal haemolytic uraemic syndrome

Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans

Discovery of clinically relevant fusions in pediatric cancer

Disease-Associated Mosaic Variation in Clinical Exome Sequencing: A Two Year Pediatric Tertiary Care Experience

EF-P dependent pauses integrate proximal and distal signals during translation

Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma

Evidence of pioneer factor activity of an oncogenic fusion transcription factor

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

Fructose-asparagine is a primary nutrient during growth of Salmonella in the inflamed intestine

Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.

Gene Expression Analysis in Diabetes Research

Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis

Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma

HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae

Human Bile-Mediated Regulation of Salmonella Curli Fimbriae

Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism.

In-frame de novo mutation in in two patients with muscular atrophy and arthrogryposis

Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib

Intrauterine growth restriction is a direct consequence of localized maternal uropathogenic Escherichia coli cystitis

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

Nutrition-hormone receptor-gene interactions: implications for development and disease

Pancreatic beta cells require NeuroD to achieve and maintain functional maturity

Pathoadaptive Alteration of Salmonella Biofilm Formation in Response to the Gallbladder Environment

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Phagosome-regulated mTOR Signalling during Sarcoidosis Granuloma Biogenesis

Phosphatidylinositol 3-kinase (PI3K) signaling via glycogen synthase kinase-3 (Gsk-3) regulates DNA methylation of imprinted loci

Profiling the miRNome: Detecting Global miRNA Expression Levels with DNA Microarrays

Publisher Correction: Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function

Reprioritization of biofilm metabolism is associated with nutrient adaptation and long-term survival of Haemophilus influenzae

Safety Profile of Good Manufacturing Practice Manufactured Interferon γ-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials.

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads

Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue

The nucleosome map of the mammalian liver

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.

Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function

Whole-blood transcriptomic responses to lumacaftor/ivacaftor therapy in cystic fibrosis