Deafness Publications

Title Authors Journal Year of Publication DOI Pubmed ID
Title
Human and mouse essentiality screens as a resource for disease gene discovery
Authors
P. Cacheiro, V. Munoz-Fuentes, S.A. Murray, M.E. Dickinson, M. Bucan, L.M.J. Nutter, K.A. Peterson, H. Haselimashhadi, A.M. Flenniken, H. Morgan, H. Westerberg, T. Konopka, C.W. Hsu, A. Christiansen, D.G. Lanza, A.L. Beaudet, J.D. Heaney, H. Fuchs, V. Gailus-Durner, T. Sorg, J. Prochazka, V. Novosadova, C.J. Lelliott, H. Wardle-Jones, S. Wells, L. Teboul, H. Cater, M. Stewart, T. Hough, W. Wurst, R. Sedlacek, D.J. Adams, J.R. Seavitt, G. Tocchini-Valentini, F. Mammano, R.E. Braun, C. McKerlie, Y. Herault, M.H. de Angelis, A.M. Mallon, K.C.K. Lloyd, S.D.M. Brown, H. Parkinson, T.F. Meehan, D. Smedley
Journal
Nat Commun
Year
2020
DOI
10.1038/s41467-020-14284-2
Title
The Deep Genome Project
Authors
K.C.K. Lloyd, D.J. Adams, G. Baynam, A.L. Beaudet, F. Bosch, K.M. Boycott, R.E. Braun, M. Caulfield, R. Cohn, M.E. Dickinson, M.S. Dobbie, A.M. Flenniken, P. Flicek, S. Galande, X. Gao, A. Grobler, J.D. Heaney, Y. Herault, M.H. de Angelis, J.R. Lupski, S. Lyonnet, A.M. Mallon, F. Mammano, C.A. MacRae, R. McInnes, C. McKerlie, T.F. Meehan, S.A. Murray, L.M.J. Nutter, Y. Obata, H. Parkinson, M.S. Pepper, R. Sedlacek, J.K. Seong, T. Shiroishi, D. Smedley, G. Tocchini-Valentini, D. Valle, C.L. Wang, S. Wells, J. White, W. Wurst, Y. Xu, S.D.M. Brown
Journal
Genome Biol
Year
2020
DOI
10.1186/s13059-020-1931-9
Title
High-throughput discovery of genetic determinants of circadian misalignment
Authors
T. Zhang, P. Xie, Y. Dong, Z. Liu, F. Zhou, D. Pan, Z. Huang, Q. Zhai, Y. Gu, Q. Wu, N. Tanaka, Y. Obata, A. Bradley, C.J. Lelliott, L.M.J. Nutter, C. McKerlie, A.M. Flenniken, M.F. Champy, T. Sorg, Y. Herault, M.H. Angelis, V.G. Durner, A.M. Mallon, S.D.M. Brown, T. Meehan, H.E. Parkinson, D. Smedley, K.C.K. Lloyd, J. Yan, X. Gao, J.K. Seong, C.L. Wang, R. Sedlacek, Y. Liu, J. Rozman, L. Yang, Y. Xu
Journal
PLoS Genet
Year
2020
DOI
10.1371/journal.pgen.1008577
Title
Transcript Analysis Reveals a Hypoxic Inflammatory Environment in Human Chronic Otitis Media With Effusion
Authors
Bhutta, M. F. and Lambie, J. and Hobson, L. and Williams, D. and Tyrer, H. E. and Nicholson, G. and Brown, S. D. and Brown, H. and Piccinelli, C. and Devailly, G. and Ramsden, J. and Cheeseman, M. T.
Journal
Front Genet
Year
2020
DOI
10.3389/fgene.2019.01327
Pubmed ID
PMC7047850
Title
Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
Authors
Gaynor, K. U. and Grigorieva, I. V. and Mirczuk, S. M. and Piret, S. and Kooblall, K. G. and Stevenson, M. and Rizzoti, K. and Bowl, M. R. and Nesbit, M. A. and Christie, P. T. and Fraser, W. D. and Hough, T. and Whyte, M. P. and Lovell-Badge, R. and Thakker, R.
Journal
Endocr Connect
Year
2020
DOI
10.1530/ec-19-0478
Pubmed ID
Title
Mice With a Brd4 Mutation Represent a New Model of Nephrocalcinosis
Authors
C.M. Gorvin, N.Y. Loh, M.J. Stechman, S. Falcone, F.M. Hannan, B.N. Ahmad, S.E. Piret, A.A. Reed, J. Jeyabalan, P. Leo, M. Marshall, S. Sethi, P. Bass, I. Roberts, J. Sanderson, S. Wells, T.A. Hough, L. Bentley, P.T. Christie, M.M. Simon, A.M. Mallon, H. Schulz, R.D. Cox, M.A. Brown, N. Huebner, S.D. Brown, R.V. Thakker
Journal
J Bone Miner Res
Year
2019
DOI
10.1002/jbmr.3695
Pubmed ID
Title
An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice
Authors
C.M. Gorvin, B.N. Ahmad, M.J. Stechman, N.Y. Loh, T.A. Hough, P. Leo, M. Marshall, S. Sethi, L. Bentley, S.E. Piret, A. Reed, J. Jeyabalan, P.T. Christie, S. Wells, M.M. Simon, A.M. Mallon, H. Schulz, N. Huebner, M.A. Brown, R.D. Cox, S.D. Brown, R.V. Thakker
Journal
J Bone Miner Res
Year
2019
DOI
10.1002/jbmr.3624
Pubmed ID
Title
Age-Related Hearing Loss
Authors
M.R. Bowl, S.J. Dawson
Journal
Cold Spring Harb Perspect Med
Year
2019
DOI
10.1101/cshperspect.a033217
Pubmed ID
Title
Clarin-2 is essential for hearing by maintaining stere, CILIA, , integrity and function
Authors
L.A. Dunbar, P. Patni, C. Aguilar, P. Mburu, L. Corns, H.R. Wells, S. Delmaghani, A. Parker, S. Johnson, D. Williams, C.T. Esapa, M.M. Simon, L. Chessum, S. Newton, J. Dorning, P. Jeyarajan, S. Morse, A. Lelli, G.F. Codner, T. Peineau, S.R. Gopal, K.N. Alagramam, R. Hertzano, D. Dulon, S. Wells, F.M. Williams, C. Petit, S.J. Dawson, S.D. Brown, W. Marcotti, A. El-Amraoui, M.R. Bowl
Journal
EMBO Mol Med
Year
2019
DOI
10.15252/emmm.201910288
Pubmed ID
Title
The dark genome and pleiotropy: challenges for precision medicine
Authors
S.D.M. Brown, H.V. Lad
Journal
Mamm Genome
Year
2019
DOI
10.1007/s00335-019-09813-4
Pubmed ID
1 2 3 6