A. Devereau

Genomics England — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index3.4kcitations32works6.02yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genomics and Rare Diseases(6), Cancer Genomics and Diagnostics(4), Biomedical Text Mining and Ontologies(4), Genomics and Phylogenetic Studies(3), Mitochondrial Function and Pathology(3)

Publications30 total

Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Brain·2023· 66 citedOpen Access
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
Brain·2023· 21 citedOpen Access
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Genetics in Medicine·2022· 25 citedOpen Access
Assessing the digenic model in rare disorders using population sequencing data
European Journal of Human Genetics·2022· 7 citedOpen Access
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Genetics in Medicine·2022· 17 cited
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome
Scientific Reports·2022· 2 citedOpen Access
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
npj Genomic Medicine·2022· 38 citedOpen Access
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
Scientific Reports·2022· 38 citedOpen Access
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Genetics in Medicine·2022· 12 citedOpen Access
Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
American Journal of Medical Genetics Part A·2021· 55 citedOpen Access
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage
Nature Cancer·2021· 164 citedOpen Access
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma
Scientific Reports·2021· 60 citedOpen Access
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy
Brain·2020· 53 citedOpen Access
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
Genetics in Medicine·2020· 52 citedOpen Access
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
Genetics in Medicine·2020· 51 citedOpen Access
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Nature Communications·2020· 4 citedOpen Access
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
The American Journal of Human Genetics·2020· 34 citedOpen Access
Novel GDF2 Loss of Function Variant in a Family with HHT and PAVMs Expands the Phenotype Associated with BMP9 Dysfunction
2020· 1 cited
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Nature Communications·2020· 123 citedOpen Access
Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli
Nature·2020· 1.1k citedOpen Access
page 1 of 2Next →

Frequent Co-authors

Mark J. Caulfield(23), Tom Fowler(22), Ellen M. McDonagh(21), Dina Halai(20), Tim Hubbard(20), Greg Elgar(19), Nirupa Murugaesu(19), Dimitris Polychronopoulos(19), Marta Bleda(18), Louise C. Daugherty(18), D. Perez-Gil(18), T. Rahim(18), Mina Ryten(18), Richard H. Scott(18), Pedro Furió‐Tarí(17), Melis Kayikci(17), S. E. A. Leigh(17), Christine Patch(17), J. Pullinger(17), Pablo Riesgo-Ferreiro(17)