Lista de obras - Christopher M Watson - Dominio Público Uruguay

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome ⬇️

artículo científico publicado en 2016

A crowdsourced set of curated structural variants for the human genome

artículo científico publicado en 2020

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing ⬇️

artículo científico publicado en 2015

An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities

scientific article published on 03 February 2019

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

artículo científico publicado en 2020

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa

artículo científico publicado en 2015

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy ⬇️

scientific journal article

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

artículo científico publicado en 2014

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

scientific article published on 04 July 2019

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

artículo científico publicado en 2019

Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease

artículo científico publicado en 2010

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia ⬇️

artículo científico publicado en 2016

Detection of somatic mutations in tumors using unaligned clonal sequencing data

artículo científico publicado en 2014

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation.

artículo científico publicado en 2013

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

artículo científico publicado en 2014

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping ⬇️

artículo científico publicado en 2016

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151.

artículo científico publicado en 2015

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles ⬇️

artículo científico publicado en 2015

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.

artículo científico publicado en 2015

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads. ⬇️

artículo científico publicado en 2017

Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand

artículo científico publicado en 2009

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome

scientific article published on 30 October 2019

Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics

artículo científico publicado en 2012

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

artículo científico publicado en 2014

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization ⬇️

artículo científico publicado en 2015

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data ⬇️

artículo científico publicado en 2015

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface ⬇️

artículo científico publicado en 2014

Structure of Ubiquitin-fold Modifier 1-specific Protease UfSP2

artículo científico publicado en 2011

Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms ⬇️

artículo científico publicado en 2015

Lista de obras de Christopher M Watson

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome ⬇️

A crowdsourced set of curated structural variants for the human genome

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing ⬇️

An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy ⬇️

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia ⬇️

Detection of somatic mutations in tumors using unaligned clonal sequencing data

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation.

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping ⬇️

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151.

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles ⬇️

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads. ⬇️

Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome

Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization ⬇️

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data ⬇️

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface ⬇️

Structure of Ubiquitin-fold Modifier 1-specific Protease UfSP2

Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms ⬇️