Biocomputing Publications

Title Authors Journal Year of Publication DOI Pubmed ID
Title
Identification of genetic elements in metabolism by high-throughput mouse phenotyping
Authors
J. Rozman, B. Rathkolb, M.A. Oestereicher, C. Schutt, A.C. Ravindranath, S. Leuchtenberger, S. Sharma, M. Kistler, M. Willershauser, R. Brommage, T.F. Meehan, J. Mason, H. Haselimashhadi, T. Hough, A.M. Mallon, S. Wells, L. Santos, C.J. Lelliott, J.K. White, T. Sorg, M.F. Champy, L.R. Bower, C.L. Reynolds, A.M. Flenniken, S.A. Murray, L.M.J. Nutter, K.L. Svenson, D. West, G.P. Tocchini-Valentini, A.L. Beaudet, F. Bosch, R.B. Braun, M.S. Dobbie, X. Gao, Y. Herault, A. Moshiri, B.A. Moore, K.C.Kent Lloyd, C. McKerlie, H. Masuya, N. Tanaka, P. Flicek, H.E. Parkinson, R. Sedlacek, J.K. Seong, C.L. Wang, M. Moore, S.D. Brown, M.H. Tschop, W. Wurst, M. Klingenspor, E. Wolf, J. Beckers, F. Machicao, A. Peter, H. Staiger, H.U. Haring, H. Grallert, M. Campillos, H. Maier, H. Fuchs, V. Gailus-Durner, T. Werner, H. de Angelis
Journal
Nat Commun
Year
2018
DOI
10.1038/s41467-017-01995-2
Pubmed ID
PMC5773596
Title
A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies
Authors
G. Banks, G. Lassi, A. Hoerder-Suabedissen, F. Tinarelli, M.M. Simon, A. Wilcox, P. Lau, T.N. Lawson, S. Johnson, A. Rutman, M. Sweeting, J.E. Chesham, A.R. Barnard, N. Horner, H. Westerberg, L.B. Smith, Z. Molnar, M.H. Hastings, R.A. Hirst, V. Tucci, P.M. Nolan
Journal
Mol Psychiatry
Year
2018
DOI
10.1038/mp.2017.54
Pubmed ID
PMC5761721
Title
High-throughput mouse phenomics for characterizing mammalian gene function
Authors
S.D.M. Brown, C.C. Holmes, A.M. Mallon, T.F. Meehan, D. Smedley, S. Wells
Journal
Nat Rev Genet
Year
2018
DOI
10.1038/s41576-018-0005-2
Pubmed ID
PMC5761721
Title
An N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion
Authors
C.T. Esapa, S.E. Piret, M.A. Nesbit, G.P. Thomas, L.A. Coulton, O.M. Gallagher, M.M. Simon, S. Kumar, A.M. Mallon, I. Bellantuono, M.A. Brown, P.I. Croucher, P.K. Potter, S.D. Brown, R.D. Cox, R.V. Thakker
Journal
JBMR Plus
Year
2018
DOI
10.1002/jbm4.10033
Pubmed ID
PMC6124210
Title
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation
Authors
V. Munoz-Fuentes, P. Cacheiro, T.F. Meehan, J.A. Aguilar-Pimentel, S.D.M. Brown, A.M. Flenniken, P. Flicek, A. Galli, H.H. Mashhadi, H. de Angelis, J.K. Kim, K.C.K. Lloyd, C. McKerlie, H. Morgan, S.A. Murray, L.M.J. Nutter, P.T. Reilly, J.R. Seavitt, J.K. Seong, M. Simon, H. Wardle-Jones, A.M. Mallon, D. Smedley, H.E. Parkinson
Journal
Conserv Genet
Year
2018
DOI
10.1007/s10592-018-1072-9
Pubmed ID
PMC6061128
Title
Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition
Authors
K.S. Small, M. Todorcevic, M. Civelek, J.S.ElSaye Moustafa, X. Wang, M.M. Simon, J. Fernandez-Tajes, A. Mahajan, M. Horikoshi, A. Hugill, C.A. Glastonbury, L. Quaye, M.J. Neville, S. Sethi, M. Yon, C. Pan, N. Che, A. Vinuela, P.C. Tsai, A. Nag, A. Buil, G. Thorleifsson, A. Raghavan, Q. Ding, A.P. Morris, J.T. Bell, U. Thorsteinsdottir, K. Stefansson, M. Laakso, I. Dahlman, P. Arner, A.L. Gloyn, K. Musunuru, A.J. Lusis, R.D. Cox, F. Karpe, M.I. McCarthy
Journal
Nat Genet
Year
2018
DOI
10.1038/s41588-018-0088-x
Pubmed ID
PMC5935235
Title
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways
Authors
T. Agnew, M. Goldsworthy, C. Aguilar, A. Morgan, M. Simon, H. Hilton, C. Esapa, Y. Wu, H. Cater, L. Bentley, C. Scudamore, J. Poulton, K.J. Morten, K. Thompson, L. He, S.D.M. Brown, R.W. Taylor, M.R. Bowl, R.D. Cox
Journal
Cell Rep
Year
2018
DOI
10.1016/j.celrep.2018.11.080
Pubmed ID
PMC6315286
Title
Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function
Authors
A.S. Findlay, R.N. Carter, B. Starbuck, L. McKie, K. Novakova, P.S. Budd, M.A. Keighren, J.A. Marsh, S.H. Cross, M.M. Simon, P.K. Potter, N.M. Morton, I.J. Jackson
Journal
Dis Model Mech
Year
2018
DOI
10.1242/dmm.036426
Pubmed ID
PMC6307916
Title
Identification of genes required for eye development by high-throughput screening of mouse knockouts
Authors
B.A. Moore, B.C. Leonard, L. Sebbag, S.G. Edwards, A. Cooper, D.M. Imai, E. Straiton, L. Santos, C. Reilly, S.M. Griffey, L. Bower, D. Clary, J. Mason, M.J. Roux, H. Meziane, Y. Herault, C. McKerlie, A.M. Flenniken, L.M.J. Nutter, Z. Berberovic, C. Owen, S. Newbigging, H. Adissu, M. Eskandarian, C.W. Hsu, S. Kalaga, U. Udensi, C. Asomugha, R. Bohat, J.J. Gallegos, J.R. Seavitt, J.D. Heaney, A.L. Beaudet, M.E. Dickinson, M.J. Justice, V. Philip, V. Kumar, K.L. Svenson, R.E. Braun, S. Wells, H. Cater, M. Stewart, S. Clementson-Mobbs, R. Joynson, X. Gao, T. Suzuki, S. Wakana, D. Smedley, J.K. Seong, G. Tocchini-Valentini, M. Moore, C. Fletcher, N. Karp, R. Ramirez-Solis, J.K. White, M.H. de Angelis, W. Wurst, S.M. Thomasy, P. Flicek, H. Parkinson, S.D.M. Brown, T.F. Meehan, P.M. Nishina, S.A. Murray, M.P. Krebs, A.M. Mallon, K.C.K. Lloyd, C.J. Murphy, A. Moshiri
Journal
Commun Biol
Year
2018
DOI
10.1038/s42003-018-0226-0
Pubmed ID
PMC6303268
Title
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction
Authors
M.R. Bowl, M.M. Simon, N.J. Ingham, S. Greenaway, L. Santos, H. Cater, S. Taylor, J. Mason, N. Kurbatova, S. Pearson, L.R. Bower, D.A. Clary, H. Meziane, P. Reilly, O. Minowa, L. Kelsey, G.P. Tocchini-Valentini, X. Gao, A. Bradley, W.C. Skarnes, M. Moore, A.L. Beaudet, M.J. Justice, J. Seavitt, M.E. Dickinson, W. Wurst, M.H. de Angelis, Y. Herault, S. Wakana, L.M.J. Nutter, A.M. Flenniken, C. McKerlie, S.A. Murray, K.L. Svenson, R.E. Braun, D.B. West, K.C.K. Lloyd, D.J. Adams, J. White, N. Karp, P. Flicek, D. Smedley, T.F. Meehan, H.E. Parkinson, L.M. Teboul, S. Wells, K.P. Steel, A.M. Mallon, S.D.M. Brown
Journal
Nat Commun
Year
2017
DOI
10.1038/s41467-017-00595-4
Pubmed ID
PMC5638796
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