Lista de obras - Joep de Ligt - Dominio Público Uruguay

A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity.

artículo científico publicado en 2017

A Single Complex Allele in a Patient With Partial Lipodystrophy

scientific article published on 26 September 2018

A System-wide Approach to Monitor Responses to Synergistic BRAF and EGFR Inhibition in Colorectal Cancer Cells

article

A de novo paradigm for mental retardation

artículo científico publicado en 2010

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

scientific article published on 06 October 2016

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

Cancer cells copy migratory behavior and exchange signaling networks via extracellular vesicles

scientific article published on 14 June 2018

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

artículo científico publicado en 2015

Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer

scientific article published on 20 June 2019

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

artículo científico publicado en 2014

Detection of clinically relevant copy number variants with whole-exome sequencing

artículo científico publicado en 2013

Diagnostic exome sequencing in persons with severe intellectual disability

article by Joep de Ligt et al published 15 November 2012 in The New England Journal of Medicine

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

artículo científico publicado en 2013

Genetic dissection of colorectal cancer progression by orthotopic transplantation of engineered cancer organoids

scientific article published on 07 March 2017

Genomic epidemiology reveals transmission patterns and dynamics of SARS-CoV-2 in Aotearoa New Zealand

scientific article published on 11 December 2020

Genomic landscape of rat strain and substrain variation

artículo científico publicado en 2015

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

artículo científico publicado en 2014

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

Long-term culture of genome-stable bipotent stem cells from adult human liver

artículo científico publicado en 2015

Long-term expanding human airway organoids for disease modeling

scientific article published on 14 January 2019

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

artículo científico publicado en 2017

Mobster: accurate detection of mobile element insertions in next generation sequencing data

artículo científico publicado en 2014

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

artículo científico publicado en 2017

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

artículo científico publicado en 2014

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

artículo científico publicado en 2012

NR2F1 mutations cause optic atrophy with intellectual disability.

artículo científico publicado en 2014

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity

artículo científico publicado en 2018

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

artículo científico publicado en 2012

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

artículo científico publicado en 2015

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

artículo científico publicado en 2015

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

article

Novel genetic causes for cerebral visual impairment

artículo científico publicado en 2015

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

artículo científico publicado en 2016

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

artículo científico publicado en 2014

Point mutations as a source of de novo genetic disease ⬇️

artículo científico publicado el 1 de marzo de 2013

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

artículo científico publicado en 2013

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

artículo científico publicado en 2012

Scalable Workflows and Reproducible Data Analysis for Genomics

scientific article published on 01 January 2019

The Genomic Scrapheap Challenge; Extracting Relevant Data from Unmapped Whole Genome Sequencing Reads, Including Strain Specific Genomic Segments, in Rats

artículo científico publicado en 2016

The molecular genetic make-up of male breast cancer

artículo científico publicado en 2019

Tissue-specific mutation accumulation in human adult stem cells during life

artículo científico publicado en 2016

Toward effective software solutions for big biology

artículo científico publicado en 2015

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.

artículo científico publicado en 2017

Lista de obras de Joep de Ligt

A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity.

A Single Complex Allele in a Patient With Partial Lipodystrophy

A System-wide Approach to Monitor Responses to Synergistic BRAF and EGFR Inhibition in Colorectal Cancer Cells

A de novo paradigm for mental retardation

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

Cancer cells copy migratory behavior and exchange signaling networks via extracellular vesicles

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

Detection of clinically relevant copy number variants with whole-exome sequencing

Diagnostic exome sequencing in persons with severe intellectual disability

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Genetic dissection of colorectal cancer progression by orthotopic transplantation of engineered cancer organoids

Genomic epidemiology reveals transmission patterns and dynamics of SARS-CoV-2 in Aotearoa New Zealand

Genomic landscape of rat strain and substrain variation

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Long-term culture of genome-stable bipotent stem cells from adult human liver

Long-term expanding human airway organoids for disease modeling

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

NR2F1 mutations cause optic atrophy with intellectual disability.

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

Novel genetic causes for cerebral visual impairment

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

Point mutations as a source of de novo genetic disease ⬇️

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

Scalable Workflows and Reproducible Data Analysis for Genomics

The Genomic Scrapheap Challenge; Extracting Relevant Data from Unmapped Whole Genome Sequencing Reads, Including Strain Specific Genomic Segments, in Rats

The molecular genetic make-up of male breast cancer

Tissue-specific mutation accumulation in human adult stem cells during life

Toward effective software solutions for big biology

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.