A. Buniello

发表

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Laura W. Harris, F. Cunningham, P. Flicek, 2018, Genome Biology.

PLCγ-activated signalling is essential for TrkB mediated sensory neuron structural plasticity

K. Beisel, L. Minichiello, Bernd Fritzsch, 2010, BMC Developmental Biology.

A community driven GWAS summary statistics standard

Laura W. Harris, F. Cunningham, H. Parkinson, 2023, bioRxiv.

An expression atlas of connexin genes in the mouse.

S. Volinia, P. Gasparini, A. Buniello, 2004, Genomics.

The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear

K. Steel, N. Ingham, M. Wakelam, 2022, Cells.

The next-generation Open Targets Platform: reimagined, redesigned, rebuilt

Konstantinos D. Tsirigos, E. McDonagh, I. Dunham, 2022, Nucleic Acids Res..

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Helen E. Parkinson, Jacqueline A. L. MacArthur, Maria Cerezo, 2018, Nucleic Acids Res..

The Polygenic Score Catalog: an open database for reproducibility and systematic evaluation

S. A. Lambert, H. Parkinson, J. A. MacArthur, 2020, medRxiv.

Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss

K. Steel, P. Gasparini, G. Girotto, 2013, PloS one.

Open Targets Genetics: An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

Ellen M. Schmidt, J. Todd, J. Barrett, 2020, bioRxiv.

Sequencing-based genome-wide association studies reporting standards

Maria Cerezo, Peggy Hall, Aoife McMahon, 2021, Cell genomics.

Workshop proceedings: GWAS summary statistics standards and sharing

Laura W. Harris, Orli G. Bahcall, M. Inouye, 2021, Cell genomics.

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Laura W. Harris, F. Cunningham, P. Flicek, 2017, bioRxiv.

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

Gautier Koscielny, Simon Jupp, Zoe May Pendlington, 2020, Nucleic Acids Res..

Headbobber: A Combined Morphogenetic and Cochleosaccular Mouse Model to Study 10qter Deletions in Human Deafness

K. Steel, E. Bober, A. Buniello, 2013, PloS one.

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

K. Steel, S. Leal, N. Tommerup, 2015, PLoS genetics.

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

Zoe May Pendlington, Laura W. Harris, H. Parkinson, 2022, Nucleic Acids Res..

A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance

Tom R. Gaunt, V. Gudnason, V. Emilsson, 2021, medRxiv.

A community driven GWAS summary statistics standard

Laura W. Harris, H. Parkinson, Y. Okada, 2023, bioRxiv.

User-focused development of the NHGRI-EBI Genome-Wide Association Studies Catalog

Laura W. Harris, P. Flicek, H. Parkinson, 2019 .

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

M. P. Concas, T. Spector, C. Steves, 2014, Human molecular genetics.

A community driven GWAS summary statistics standard

Laura W. Harris, H. Parkinson, Y. Okada, 2023, bioRxiv.

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

Jacqueline K. White, C. Lelliott, K. Steel, 2019, PLoS biology.

Functional analysis of candidate genes from genome-wide association studies of hearing

K. Steel, N. Ingham, G. Girotto, 2020, Hearing Research.

Correction: Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function

K. Steel, P. Gasparini, G. Girotto, 2014, PLoS ONE.

Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function

K. Steel, P. Gasparini, G. Girotto, 2014, PloS one.

Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing

Jacqueline K. White, Stuart L. Johnson, K. Steel, 2016, EMBO molecular medicine.

WBP 2 is a novel deafness gene

Jacqueline K. White, Stuart L. Johnson, K. Steel, 2016 .

Exploring regulatory networks of miR-96 in the developing inner ear

Anton J. Enright, K. Steel, A. Enright, 2016, Scientific Reports.

Systematic disease-agnostic identification of therapeutically actionable targets using the genetics of human plasma proteins

E. McDonagh, I. Dunham, M. Ghoussaini, 2023, medRxiv.

S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse

Jacqueline K. White, J. Chen, K. Steel, 2016, Scientific Reports.

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Laura W. Harris, L. Hindorff, Heather Junkins, 2017, bioRxiv.

The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation

J. Danesh, S. Jupp, A. McMahon, 2021, Nature Genetics.

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

J. Todd, J. Barrett, I. Dunham, 2021, Nature Genetics.