List of works - Annalisa Buniello

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

scientific journal article

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

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

An expression atlas of connexin genes in the mouse

scientific article published in May 2004

EMBL’s European Bioinformatics Institute (EMBL-EBI) in 2023

scientific article published on 28 November 2023

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

scientific article published on 18 March 2016

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

scientific article published on 14 January 2014

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

scientific article published on 02 January 2020

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

scientific article

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

scientific article

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

article

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

scientific article

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

scientific article published on 07 July 2016

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

scientific article

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

scientific article published on 01 January 2019

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

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

scientific article

Workshop proceedings: GWAS summary statistics standards and sharing

scientific article published on 13 October 2021

List of works by Annalisa Buniello

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

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

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

An expression atlas of connexin genes in the mouse

EMBL’s European Bioinformatics Institute (EMBL-EBI) in 2023

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

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

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

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

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

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

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

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

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

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

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

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

Workshop proceedings: GWAS summary statistics standards and sharing