T. Rahim

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.

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.

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.

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

D. Smedley, C. Tregidgo, D. Polychronopoulos, 2021 .

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

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

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.

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.

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.

Mendelian gene identification through mouse embryo viability screening

Jacqueline K. White, Jason D. Heaney, M. B. Pereira, 2022, Genome Medicine.

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

M. B. Pereira, A. Need, M. Kayikci, 2021, Genetics in Medicine.

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.

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.

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.

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.

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.

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.

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.

Publisher Correction: 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.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

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.

High definition analyses of single cohort, whole genome sequencing data provides a direct route to defining sub-phenotypes and personalising medicine

Arianna, M. Kayikci, M. Bleda, 2021, medRxiv.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

A. Need, M. Kayikci, M. Caulfield, 2023, Kidney international.

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.

Limited overlap between genetic effects on disease susceptibility and disease survival

M. Kayikci, L. Moutsianas, D. Kasperavičiūtė, 2023, medRxiv.