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

por Girotto, Giorgia, Vuckovic, Dragana, Buniello, Annalisa, Lorente-Cánovas, Beatriz, Lewis, Morag, Gasparini, Paolo, Steel, Karen P.
Publicado 2014

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

por Sciarretta, Carla, Fritzsch, Bernd, Beisel, Kirk, Rocha-Sanchez, Sonia M, Buniello, Annalisa, Horn, Jacqueline M, Minichiello, Liliana
Publicado 2010

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

por Buniello, Annalisa, Hardisty-Hughes, Rachel E., Pass, Johanna C., Bober, Eva, Smith, Richard J., Steel, Karen P.
Publicado 2013

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

por Ingham, Neil J., Rook, Victoria, Di Domenico, Francesca, James, Elysia, Lewis, Morag A., Girotto, Giorgia, Buniello, Annalisa, Steel, Karen P.
Publicado 2020

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

por Lewis, Morag A., Buniello, Annalisa, Hilton, Jennifer M., Zhu, Fei, Zhang, William I., Evans, Stephanie, van Dongen, Stijn, Enright, Anton J., Steel, Karen P.
Publicado 2016

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

por Kochaj, Rafael M., Martelletti, Elisa, Ingham, Neil J., Buniello, Annalisa, Sousa, Bebiana C., Wakelam, Michael J. O., Lopez-Clavijo, Andrea F., Steel, Karen P.
Publicado 2022

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

por Girotto, Giorgia, Abdulhadi, Khalid, Buniello, Annalisa, Vozzi, Diego, Licastro, Danilo, d'Eustacchio, Angela, Vuckovic, Dragana, Alkowari, Moza Khalifa, Steel, Karen P., Badii, Ramin, Gasparini, Paolo
Publicado 2013

Sequencing-based genome-wide association studies reporting standards

por McMahon, Aoife, Lewis, Elizabeth, Buniello, Annalisa, Cerezo, Maria, Hall, Peggy, Sollis, Elliot, Parkinson, Helen, Hindorff, Lucia A., Harris, Laura W., MacArthur, Jacqueline A.L.
Publicado 2021

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

por Ingham, Neil J., Carlisle, Francesca, Pearson, Selina, Lewis, Morag A., Buniello, Annalisa, Chen, Jing, Isaacson, Rivka L., Pass, Johanna, White, Jacqueline K., Dawson, Sally J., Steel, Karen P.
Publicado 2016

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

por Buniello, Annalisa, Ingham, Neil J, Lewis, Morag A, Huma, Andreea C, Martinez‐Vega, Raquel, Varela‐Nieto, Isabel, Vizcay‐Barrena, Gema, Fleck, Roland A, Houston, Oliver, Bardhan, Tanaya, Johnson, Stuart L, White, Jacqueline K, Yuan, Huijun, Marcotti, Walter, Steel, Karen P
Publicado 2016

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

por Wolber, Lisa E., Girotto, Giorgia, Buniello, Annalisa, Vuckovic, Dragana, Pirastu, Nicola, Lorente-Cánovas, Beatriz, Rudan, Igor, Hayward, Caroline, Polasek, Ozren, Ciullo, Marina, Mangino, Massimo, Steves, Claire, Concas, Maria Pina, Cocca, Massilimiliano, Spector, Tim D., Gasparini, Paolo, Steel, Karen P., Williams, Frances M.K.
Publicado 2014

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

por Mountjoy, Edward, Schmidt, Ellen M., Carmona, Miguel, Schwartzentruber, Jeremy, Peat, Gareth, Miranda, Alfredo, Fumis, Luca, Hayhurst, James, Buniello, Annalisa, Karim, Mohd Anisul, Wright, Daniel, Hercules, Andrew, Papa, Eliseo, Fauman, Eric B., Barrett, Jeffrey C., Todd, John A., Ochoa, David, Dunham, Ian, Ghoussaini, Maya
Publicado 2021

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

por Anisul, Mohd, Shilts, Jarrod, Schwartzentruber, Jeremy, Hayhurst, James, Buniello, Annalisa, Shaikho Elhaj Mohammed, Elmutaz, Zheng, Jie, Holmes, Michael, Ochoa, David, Carmona, Miguel, Maranville, Joseph, Gaunt, Tom R, Emilsson, Valur, Gudnason, Vilmundur, McDonagh, Ellen M, Wright, Gavin J, Ghoussaini, Maya, Dunham, Ian
Publicado 2021

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

por Morales, Joannella, Welter, Danielle, Bowler, Emily H., Cerezo, Maria, Harris, Laura W., McMahon, Aoife C., Hall, Peggy, Junkins, Heather A., Milano, Annalisa, Hastings, Emma, Malangone, Cinzia, Buniello, Annalisa, Burdett, Tony, Flicek, Paul, Parkinson, Helen, Cunningham, Fiona, Hindorff, Lucia A., MacArthur, Jacqueline A. L.
Publicado 2018

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

por Ingham, Neil J., Pearson, Selina A., Vancollie, Valerie E., Rook, Victoria, Lewis, Morag A., Chen, Jing, Buniello, Annalisa, Martelletti, Elisa, Preite, Lorenzo, Lam, Chi Chung, Weiss, Felix D., Powis, Zӧe, Suwannarat, Pim, Lelliott, Christopher J., Dawson, Sally J., White, Jacqueline K., Steel, Karen P.
Publicado 2019

Workshop proceedings: GWAS summary statistics standards and sharing

por MacArthur, Jacqueline A.L., Buniello, Annalisa, Harris, Laura W., Hayhurst, James, McMahon, Aoife, Sollis, Elliot, Cerezo, Maria, Hall, Peggy, Lewis, Elizabeth, Whetzel, Patricia L., Bahcall, Orli G., Barroso, Inês, Carroll, Robert J., Inouye, Michael, Manolio, Teri A., Rich, Stephen S., Hindorff, Lucia A., Wiley, Ken, Parkinson, Helen
Publicado 2021

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

por Nyegaard, Mette, Rendtorff, Nanna D., Nielsen, Morten S., Corydon, Thomas J., Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T., Leal, Suzanne M., Ahmad, Wasim, Wikman, Friedrik P., Petersen, Kirsten B., Crüger, Dorthe G., Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P., Tranebjærg, Lisbeth, Børglum, Anders D.
Publicado 2015

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

por Buniello, Annalisa, MacArthur, Jacqueline A L, Cerezo, Maria, Harris, Laura W, Hayhurst, James, Malangone, Cinzia, McMahon, Aoife, Morales, Joannella, Mountjoy, Edward, Sollis, Elliot, Suveges, Daniel, Vrousgou, Olga, Whetzel, Patricia L, Amode, Ridwan, Guillen, Jose A, Riat, Harpreet S, Trevanion, Stephen J, Hall, Peggy, Junkins, Heather, Flicek, Paul, Burdett, Tony, Hindorff, Lucia A, Cunningham, Fiona, Parkinson, Helen
Publicado 2019

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

por Sollis, Elliot, Mosaku, Abayomi, Abid, Ala, Buniello, Annalisa, Cerezo, Maria, Gil, Laurent, Groza, Tudor, Güneş, Osman, Hall, Peggy, Hayhurst, James, Ibrahim, Arwa, Ji, Yue, John, Sajo, Lewis, Elizabeth, MacArthur, Jacqueline A L, McMahon, Aoife, Osumi-Sutherland, David, Panoutsopoulou, Kalliope, Pendlington, Zoë, Ramachandran, Santhi, Stefancsik, Ray, Stewart, Jonathan, Whetzel, Patricia, Wilson, Robert, Hindorff, Lucia, Cunningham, Fiona, Lambert, Samuel A, Inouye, Michael, Parkinson, Helen, Harris, Laura W
Publicado 2022

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

por Ochoa, David, Hercules, Andrew, Carmona, Miguel, Suveges, Daniel, Baker, Jarrod, Malangone, Cinzia, Lopez, Irene, Miranda, Alfredo, Cruz-Castillo, Carlos, Fumis, Luca, Bernal-Llinares, Manuel, Tsukanov, Kirill, Cornu, Helena, Tsirigos, Konstantinos, Razuvayevskaya, Olesya, Buniello, Annalisa, Schwartzentruber, Jeremy, Karim, Mohd, Ariano, Bruno, Martinez Osorio, Ricardo Esteban, Ferrer, Javier, Ge, Xiangyu, Machlitt-Northen, Sandra, Gonzalez-Uriarte, Asier, Saha, Shyamasree, Tirunagari, Santosh, Mehta, Chintan, Roldán-Romero, Juan María, Horswell, Stuart, Young, Sarah, Ghoussaini, Maya, Hulcoop, David G, Dunham, Ian, McDonagh, Ellen M
Publicado 2022