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Authors whose works are in public domain in at least one jurisdiction

List of works by Annalisa Buniello

1-18 of 18 results

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

scientific article published on 01 January 2019
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

scientific article published on 15 February 2018
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss

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

scientific article published on 14 January 2014
PLCγ-activated signalling is essential for TrkB mediated sensory neuron structural plasticity

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

scientific article
An expression atlas of connexin genes in the mouse

scientific article published in May 2004
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

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

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

scientific article published on 07 July 2016
Mouse screen reveals multiple new genes underlying mouse and human hearing loss

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

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

scientific article published on 18 March 2016
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Workshop proceedings: GWAS summary statistics standards and sharing

scientific article published on 13 October 2021
The next-generation Open Targets Platform: reimagined, redesigned, rebuilt

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

scientific article published on 02 January 2020
EMBL’s European Bioinformatics Institute (EMBL-EBI) in 2023

scientific article published on 28 November 2023

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