E. Thomas

发表

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.

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

A. Need, M. Kayikci, D. Baralle, 2020, Scientific Reports.

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.

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

A. Need, M. Bleda, L. Moutsianas, 2022, Nature Communications.

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

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

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

A. Need, J. Clayton-Smith, I. MacDonald, 2022, 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.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

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.

Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

A. Need, H. Rehm, D. Baralle, 2022, Human Genetics.

Assessing the digenic model in rare disorders using population sequencing data

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

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

A. Need, A. Pagnamenta, J. Wren, 2021, Genetics in Medicine.

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

A. Need, P. Tarpey, H. Firth, 2022, British Journal of Cancer.

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.

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.

Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Tudor I. Oprea, Corey L. Reynolds, Denise G. Lanza, 2022, Nature Cardiovascular Research.

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

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

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

A. Need, T. Hearn, M. Bleda, 2022, European Journal of Human Genetics.

The genomic landscape of familial glioma

A. Need, R. Gibbs, E. Boerwinkle, 2023, Science advances.

Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Tudor I. Oprea, Corey L. Reynolds, Denise G. Lanza, 2022, Nature Cardiovascular Research.

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

A. Need, C. Rivolta, M. Bleda, 2022, npj Genomic Medicine.

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.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

A. Need, J. Annereau, M. Bleda, 2023, Scientific reports.

A novel likely pathogenic CLCN5 variant in Dent’s disease

A. Need, M. Bleda, L. Moutsianas, 2023, BMC Nephrology.

Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project

Wai Hoong Chang, A. Need, M. Bleda, 2021, BMC Research Notes.

P14 Very High Quality Next-generation Dna Sequencing Data From Human Genomic Dna Samples Stored, And Intermittently Defrosted Over Two Decades

L. Game, C. Shovlin, I. Mollet, 2014, Thorax.