List of works - Tomas Fitzgerald

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 9 March 2018

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

Comparative genomic hybridization: DNA labeling, hybridization and detection

scientific article

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

scientific article published on 21 August 2019

Copy number variation and evolution in humans and chimpanzees

scientific article published on 04 September 2008

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

scientific article published on 10 May 2015

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

scientific article published on 5 October 2015

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

scientific article published in July 2015

Genetic basis of Y-linked hearing impairment

scientific article

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

scientific article

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

scientific article

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

scientific article published in October 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

scientific article

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

scientific article published on 21 February 2022

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

scientific article published on 28 January 2011

Large scale variation in DNA copy number in chicken breeds

scientific article

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

scientific article

Mobilization of giant piggyBac transposons in the mouse genome

scientific article

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

scientific article (publication date: April 2010)

RNA modifications detection by comparative Nanopore direct RNA sequencing

scientific article published on 10 December 2021

Recurrent duplications of 17q12 associated with variable phenotypes.

scientific article published on 30 September 2015

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

scientific article

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

scientific article published on 29 April 2022

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

scientific article published on 26 June 2018

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

scientific article published on 25 February 2011

List of works by Tomas 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