List of works - David Richardson

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

scientific article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

Alignment of 1000 Genomes Project Reads to Reference Assembly GRCh38.

scientific article

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

scientific article

BioSamples database: an updated sample metadata hub

scientific article published on 01 January 2019

Detection and partial characterization of simian immunodeficiency virus SIVsm strains from bush meat samples from rural Sierra Leone

scientific article

FAANG, establishing metadata standards, validation and best practices for the farmed and companion animal community

scientific article published on 12 October 2018

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

scientific article

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

scientific article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

scientific article

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

scientific article

Principles and application of LIMS in mouse clinics

scientific article (publication date: October 2015)

The BLUEPRINT Data Analysis Portal.

scientific article

Transcriptional diversity during lineage commitment of human blood progenitors

scientific article

Whole-epigenome analysis in multiple myeloma reveals DNA hypermethylation of B cell-specific enhancers.

scientific article

List of works by David Richardson

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Alignment of 1000 Genomes Project Reads to Reference Assembly GRCh38.

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

BioSamples database: an updated sample metadata hub

Detection and partial characterization of simian immunodeficiency virus SIVsm strains from bush meat samples from rural Sierra Leone

FAANG, establishing metadata standards, validation and best practices for the farmed and companion animal community

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Principles and application of LIMS in mouse clinics

The BLUEPRINT Data Analysis Portal.

Transcriptional diversity during lineage commitment of human blood progenitors

Whole-epigenome analysis in multiple myeloma reveals DNA hypermethylation of B cell-specific enhancers.