A. de Burca

发表

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Katherine R. Smith, D. Smedley, M. Caulfield, 2019, Nature Genetics.

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.

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

D. Pilz, J. Burn, D. Fitzpatrick, 2017, European journal of medical genetics.

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.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Short Interspersed Element (SINE) Depletion and Long Interspersed Element (LINE) Abundance Are Not Features Universally Required for Imprinting

R. McCole, A. de Burca, Reiner Schulz, 2011, PloS one.

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.

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

A. Pagnamenta, Matteo P. Ferla, Jenny C. Taylor, 2019, Clinical genetics.

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.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Katherine R. Smith, D. Smedley, M. Caulfield, 2019, Nature 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 ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

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.

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.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

S. Mehta, Y. Crow, D. Clifford, 2020, American journal of medical genetics. Part A.

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.

Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene

A. de Burca, L. Impey, C. Ioannou, 2022, Prenatal diagnosis.

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.