List of works by Elena Prigmore

A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

scientific article published on 20 July 2012

A spatially resolved atlas of the human lung characterizes a gland-associated immune niche

scientific article published in 2022

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

scientific article

Blood and immune development in human fetal bone marrow and Down syndrome

scientific article published on 29 September 2021

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

scientific article published on 27 March 2008

Characterization of a 3;6 translocation associated with renal cell carcinoma.

scientific article published on April 2007

Chromosome paints from single copies of chromosomes

scientific article

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

scientific article (publication date: 8 May 2011)

Contribution of retrotransposition to developmental disorders

scientific article published on 11 October 2019

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

scientific article published on 5 October 2015

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

scientific article

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

scientific article published on 21 June 2019

Genetic and chemotherapeutic influences on germline hypermutation

scientific article published on 11 May 2022

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

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

Human SARS-CoV-2 challenge uncovers local and systemic response dynamics

scientific article published on 19 June 2024

Local and systemic responses to SARS-CoV-2 infection in children and adults

scientific article published on 22 December 2021

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

scientific article published on 11 January 2018

Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro

scientific article published on 02 December 2021

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

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

scientific article published on 21 September 2011

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

scientific article

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

scientific article published on 08 October 2018

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals

scientific article published on November 2005

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

article by Jenny Lord et al published 23 February 2019 in The Lancet

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

Quantifying the contribution of recessive coding variation to developmental disorders

scholarly article

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

scientific article

Requirement for PI 3-kinase gamma in macrophage migration to MCP-1 and CSF-1.

scientific article published in October 2003

Single cell derived mRNA signals across human kidney tumors

scientific article published on 23 June 2021

Single-cell multi-omics analysis of the immune response in COVID-19

scientific article published on 20 April 2021

Single-cell roadmap of human gonadal development

scientific article published in July 2022

Single-cell transcriptomics reveals a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia

scientific article published on 14 March 2022

The cellular immune response to COVID-19 deciphered by single cell multi-omics across three UK centres

scientific article published on 15 January 2021

The local and systemic response to SARS-CoV-2 infection in children and adults

scientific article published on 15 March 2021

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene

scientific article

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