Lista de obras - Tomas W Fitzgerald - Dominio Público Uruguay

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

artículo científico publicado en 2014

A robust statistical method for case-control association testing with copy number variation

scientific article published on 07 September 2008

Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays

artículo científico publicado en 2009

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

artículo científico publicado en 2007

ChromoTrace: Computational reconstruction of 3D chromosome configurations for super-resolution microscopy.

artículo científico publicado en 2018

ChromoTrace: Reconstruction of 3D Chromosome Configurations by Super-Resolution Microscopy

Comparative genomic hybridization: DNA labeling, hybridization and detection

artículo científico publicado en 2009

Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank

artículo científico publicado en 2019

Copy number variation and evolution in humans and chimpanzees

artículo científico publicado en 2008

Copy number variation in the human Y chromosome in the UK population

artículo científico publicado en 2015

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

artículo científico publicado en 2015

Erratum to: Copy number variation in the human Y chromosome in the UK population

artículo científico publicado en 2015

Genetic basis of Y-linked hearing impairment

artículo científico publicado en 2013

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

artículo científico publicado en 2014

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations.

artículo científico publicado en 2009

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

artículo científico publicado en 2009

Genomic variations and epigenomic landscape of the Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel

artículo científico

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

artículo científico publicado en 2011

Large scale variation in DNA copy number in chicken breeds

artículo científico publicado en 2013

Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome

artículo científico publicado en 2013

Mobilization of giant piggyBac transposons in the mouse genome

artículo científico publicado en 2011

Origins and functional impact of copy number variation in the human genome

artículo científico publicado en 2010

RNA modifications detection by comparative Nanopore direct RNA sequencing

artículo científico

Recurrent duplications of 17q12 associated with variable phenotypes.

artículo científico publicado en 2015

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

artículo científico publicado en 2009

Selective clonal persistence of human retroviruses in vivo: Radial chromatin organization, integration site, and host transcription

artículo científico publicado en 2022

The human leukemia virus HTLV-1 alters the structure and transcription of host chromatin in cis.

artículo científico publicado en 2018

aCGH.Spline--an R package for aCGH dye bias normalization

artículo científico publicado en 2011

Lista de obras de Tomas W Fitzgerald

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

A robust statistical method for case-control association testing with copy number variation

Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

ChromoTrace: Computational reconstruction of 3D chromosome configurations for super-resolution microscopy.

ChromoTrace: Reconstruction of 3D Chromosome Configurations by Super-Resolution Microscopy

Comparative genomic hybridization: DNA labeling, hybridization and detection

Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank

Copy number variation and evolution in humans and chimpanzees

Copy number variation in the human Y chromosome in the UK population

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Erratum to: Copy number variation in the human Y chromosome in the UK population

Genetic basis of Y-linked hearing impairment

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations.

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

Genomic variations and epigenomic landscape of the Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

Large scale variation in DNA copy number in chicken breeds

Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome

Mobilization of giant piggyBac transposons in the mouse genome

Origins and functional impact of copy number variation in the human genome

RNA modifications detection by comparative Nanopore direct RNA sequencing

Recurrent duplications of 17q12 associated with variable phenotypes.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

Selective clonal persistence of human retroviruses in vivo: Radial chromatin organization, integration site, and host transcription

The human leukemia virus HTLV-1 alters the structure and transcription of host chromatin in cis.

aCGH.Spline--an R package for aCGH dye bias normalization