P. O‘Donovan

发表

Azathioprine treatment photosensitizes human skin to ultraviolet A radiation

P. Karran, J. McGregor, S. Walker, 2008, The British journal of dermatology.

PTCH mutations in basal cell carcinomas from azathioprine-treated organ transplant recipients

P. Karran, J. McGregor, C. Proby, 2008, British Journal of Cancer.

Novel DNA lesions generated by the interaction between therapeutic thiopurines and UVA light.

P. Karran, Yaozhong Xu, Xiaolin Ren, 2007, DNA repair.

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.

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.

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

D. Baralle, N. S. Thomas, A. Ruiz, 2022, medRxiv.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

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.

Azathioprine and UVA Light Generate Mutagenic Oxidative DNA Damage

P. Karran, F. Hanaoka, J. McGregor, 2005, Science.

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.

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

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

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.

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.

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.

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.

Reactive oxygen‐mediated damage to a human DNA replication and repair protein

P. Macpherson, P. Karran, Yaozhong Xu, 2007, EMBO reports.

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

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

Cost and Capability Compromises in STEM Instrumentation for Low-Voltage Imaging

L. Jones, J. J. Peters, Frances Quigley, 2021, Microscopy and Microanalysis.

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.

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.

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.