Personal information

Verified email domains

Activities

Employment (1)

European Bioinformatics Institute: Cambridge, Cambridgeshire, GB

2022-06-01 to present | Product manager (Open Targets)
Employment
Source: Self-asserted source
Annalisa Buniello

Education and qualifications (1)

University of Naples Federico II: Naples, Campania, IT

PhD in Medical Genetics
Education
Source: Self-asserted source
Annalisa Buniello

Funding (1)

OPEN TARGETS

Grant
OPEN TARGETS (Cambridge, GB)
Source: Self-asserted source
Annalisa Buniello

Works (35)

Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery

Nucleic Acids Research
2025-01-06 | Journal article | Author
Part of ISSN: 0305-1048
Part of ISSN: 1362-4962
Contributors: Annalisa Buniello; Daniel Suveges; Carlos Cruz-Castillo; Manuel Bernal Llinares; Helena Cornu; Irene Lopez; Kirill Tsukanov; Juan María Roldán-Romero; Chintan Mehta; Luca Fumis et al.
Source: Self-asserted source
Annalisa Buniello

Associations on the Fly, a new feature aiming to facilitate exploration of the Open Targets Platform evidence

2024-09-14 | Preprint | Author
Contributors: C Cruz-Castillo; L Fumis; C Mehta; RE Martinez-Osorio; JM Roldan-Romero; H Cornu; P Uniyal; A Solano-Roman; M Carmona; D Ochoa et al.
Source: Self-asserted source
Annalisa Buniello

EMBL's European Bioinformatics Institute (EMBL-EBI) in 2023.

Nucleic acids research
2024-01 | Journal article
Contributors: Thakur M; Buniello A; Brooksbank C; Gurwitz KT; Hall M; Hartley M; Hulcoop DG; Leach AR; Marques D; Martin M et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2023-07 | Preprint
Contributors: Karim MA; Ariano B; Schwartzentruber J; Roldan-Romero JM; Mountjoy E; Hayhurst J; Buniello A; Mohammed ESE; Carmona M; Holmes MV et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2023-06-05 | Preprint | Author
Contributors: Mohd Anisul Karim; Bruno Ariano; Jeremy Schwartzentruber; Juan María Roldán-Romero; Edward Mountjoy; James Hayhurst; Annalisa Buniello; Elmutaz Shaikho; Miguel Carmona; Michael Vaclav Holmes et al.
Source: Self-asserted source
Annalisa Buniello
grade
Preferred source (of 2)‎

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

Nucleic acids research
2023-01 | Journal article
Contributors: Ochoa D; Hercules A; Carmona M; Suveges D; Baker J; Malangone C; Lopez I; Miranda A; Cruz-Castillo C; Fumis L et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

Chemical biology Q&A session

2022-12 | Other
OTHER-ID:

C8199

Contributors: Cornu H; Buniello A; Ioannidis H; Bosc N
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

Nucleic Acids Research
2022-11-09 | Journal article | Author
Part of ISSN: 0305-1048
Part of ISSN: 1362-4962
Contributors: Elliot Sollis; Abayomi Mosaku; Ala Abid; Annalisa Buniello; Maria Cerezo Fernandez; Laurent Gil; Tudor Groza; osman gunes; Peggy Hall; James Hayhurst et al.
Source: Self-asserted source
Annalisa Buniello

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

Cells
2022-10-13 | Journal article
Part of ISSN: 2073-4409
Contributors: Annalisa Buniello; Rafael M. Kochaj; Elisa Martelletti; Neil J. Ingham; Annalisa Buniello; Bebiana C. Sousa; Michael J. O. Wakelam; Andrea F. Lopez-Clavijo; Karen P. Steel
Source: Self-asserted source
Annalisa Buniello

A community driven GWAS summary statistics standard

[]
2022-07-18 | Preprint
Source: Self-asserted source
Annalisa Buniello

Sequencing-based genome-wide association studies reporting standards

Cell Genomics
2021-10 | Journal article
Part of ISSN: 2666-979X
Source: Self-asserted source
Annalisa Buniello

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

Nature Genetics
2021-10-28 | Journal article
Part of ISSN: 1061-4036
Part of ISSN: 1546-1718
Source: Self-asserted source
Annalisa Buniello

Workshop proceedings: GWAS summary statistics standards and sharing.

Cell genomics
2021-10-01 | Journal article
Contributors: Annalisa Buniello; MacArthur JAL; Buniello A; Harris LW; Hayhurst J; McMahon A; Elliot Sollis; Cerezo M; Hall P; Lewis E et al.
Source: Self-asserted source
Annalisa Buniello
grade
Preferred source (of 2)‎

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

eLife
2021-08-17 | Journal article
Part of ISSN: 2050-084X
Source: Self-asserted source
Annalisa Buniello

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

2021-03 | Preprint
Contributors: Karim MA; Shilts J; Schwartzentruber J; Hayhurst J; Buniello A; Mohammed ESE; Zheng J; Holmes MV; Ochoa D; Carmona M et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

MedRxiv
2021-03-17 | Preprint
Source: Self-asserted source
Annalisa Buniello

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

Nature genetics
2021-03-10 | Journal article
Source: Self-asserted source
Annalisa Buniello

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

Nucleic acids research
2020-10-12 | Journal article
Source: Self-asserted source
Annalisa Buniello

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

2020-09 | Preprint
Contributors: Mountjoy E; Schmidt EM; Carmona M; Peat G; Miranda A; Fumis L; Hayhurst J; Buniello A; Schwartzentruber J; Karim MA et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2020-05 | Preprint
OTHER-ID:

PPR166646

Contributors: Lambert SA; Gil L; Jupp S; Ritchie SC; Xu Y; Buniello A; Abraham G; Chapman M; Parkinson H; Danesh J et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

Hearing Research
2020-03 | Journal article
Part of ISSN: 0378-5955
Source: Self-asserted source
Annalisa Buniello

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

2019-04-11 | Journal article
Part of ISSN: 1545-7885
Source: Self-asserted source
Annalisa Buniello

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

Nucleic acids research
2018-11 | Journal article
Contributors: Buniello A; MacArthur JAL; Cerezo M; Harris LW; Hayhurst J; Malangone C; McMahon A; Morales J; Mountjoy E; Sollis E et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

Genome biology
2018-02 | Journal article
Contributors: Morales J; Welter D; Bowler EH; Cerezo M; Harris LW; McMahon AC; Hall P; Junkins HA; Milano A; Hastings E et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2017-04 | Other
OTHER-ID:

PPR7089

Contributors: Morales J; Bowler EH; Buniello A; Cerezo M; Hall P; Harris LW; Hastings E; Junkins HA; Malangone C; McMahon AC et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2016-07 | Journal article
Contributors: Ingham NJ; Carlisle F; Pearson S; Lewis MA; Buniello A; Chen J; Isaacson RL; Pass J; White JK; Dawson SJ et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2016-03 | Journal article
Contributors: Lewis MA; Buniello A; Hilton JM; Zhu F; Zhang WI; Evans S; van Dongen S; Enright AJ; Steel KP
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2016-03 | Journal article
Contributors: Buniello A; Ingham NJ; Lewis MA; Huma AC; Martinez-Vega R; Varela-Nieto I; Vizcay-Barrena G; Fleck RA; Houston O; Bardhan T et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2015-07 | Journal article
Contributors: Nyegaard M; Rendtorff ND; Nielsen MS; Corydon TJ; Demontis D; Starnawska A; Hedemand A; Buniello A; Niola F; Overgaard MT et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

Expression and replication studies to identify new candidate genes involved in normal hearing function.

2014 | Journal article
Contributors: Girotto G; Vuckovic D; Buniello A; Lorente-Cánovas B; Lewis M; Gasparini P; Steel KP
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2014-12 | Journal article
Contributors: Wolber LE; Girotto G; Buniello A; Vuckovic D; Pirastu N; Lorente-Cánovas B; Rudan I; Hayward C; Polasek O; Ciullo M et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness.

2013 | Journal article
Contributors: Buniello A; Hardisty-Hughes RE; Pass JC; Bober E; Smith RJ; Steel KP
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.

2013 | Journal article
Contributors: Girotto G; Abdulhadi K; Buniello A; Vozzi D; Licastro D; d'Eustacchio A; Vuckovic D; Alkowari MK; Steel KP; Badii R et al.
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

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

2010-10 | Journal article
Contributors: Sciarretta C; Fritzsch B; Beisel K; Rocha-Sanchez SM; Buniello A; Horn JM; Minichiello L
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

An expression atlas of connexin genes in the mouse.

2004-05 | Journal article
Contributors: Buniello A; Montanaro D; Volinia S; Gasparini P; Marigo V
Source: Self-asserted source
Annalisa Buniello via Europe PubMed Central

Peer review (1 review for 1 publication/grant)

Review activity for Communications biology. (1)