H. E. Stevens

发表

Human and mouse essentiality screens as a resource for disease gene discovery

Steve D. M. Brown, Jacqueline K. White, Ghina Bou About, 2020, Nature Communications.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

Kushmita, Watters, Katherine R. Smith, 2020 .

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

A. Need, C. Tregidgo, P. Furió-Tarí, 2022, Scientific Reports.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Mutational signature in colorectal cancer caused by genotoxic pks+E. coli

A. Need, M. Meyerson, M. Kayikci, 2020, Nature.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, M. Caulfield, 2020, Nature Communications.

Human and mouse essentiality screens as a resource for disease gene discovery

Steve D. M. Brown, Jacqueline K. White, Denise G. Lanza, 2019, bioRxiv.

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Nature Cancer.

Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Scientific Reports.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, C. Tregidgo, 2020, Nature Communications.

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

A. Need, C. Tregidgo, R. Weintraub, 2022, npj Genomic Medicine.

Assessing the digenic model in rare disorders using population sequencing data

A. Need, C. Tregidgo, P. Furió-Tarí, 2022, European Journal of Human Genetics.

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Katherine R. Smith, M. Kayikci, D. Smedley, 2022, The Lancet Neurology.

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

A. Need, C. Tregidgo, P. Furió-Tarí, 2020, Genetics in Medicine.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Brain : a journal of neurology.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

A. Need, D. Smedley, C. Tregidgo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

A. Need, M. Kayikci, D. Smedley, 2020, Genetics in Medicine.

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

A. Need, M. Kayikci, M. Caulfield, 2022, Scientific Reports.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.