bioRxiv Channel: International Mouse Phenotyping Consortium (IMPC)
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This feed contains articles for bioRxiv Channel "International Mouse Phenotyping Consortium (IMPC)"
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bioRxiv
https://biorxiv.org
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<![CDATA[
Human and mouse essentiality screens as a resource for disease gene discovery
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https://biorxiv.org/cgi/content/short/678250v1?rss=1"
Cacheiro, P.
Munoz-Fuentes, V.
Murray, S. A.
Dickinson, M. E.
Bucan, M.
Nutter, L. M. J.
Peterson, K. A.
Haselimashhadi, H.
Flenniken, A. M.
Morgan, H.
Westerberg, H.
Konopka, T.
Hsu, C.-W.
Christiansen, A.
Lanza, D. G.
Beaudet, A. L.
Heaney, J. D.
Fuchs, H.
Gailus-Durner, V.
Sorg, T.
Prochazka, J.
Novosadova, V.
Lelliott, C. J.
Wardle-Jones, H.
Wells, S.
Teboul, L.
Cater, H.
Stewart, M.
Hough, T.
Wurst, W.
Sedlacek, R.
Adams, D. J.
Seavitt, J. R.
Tocchini-Valentini, G.
Mammano, F.
Braun, R. E.
McKerlie, C.
Herault, Y.
Hrabe de Angelis, M.
Mallon, A.-M.
2019-06-24
doi:10.1101/678250
Cold Spring Harbor Laboratory Press
2019-06-24
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<![CDATA[
Reproducibility and replicability of rodent phenotyping in preclinical studies
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https://biorxiv.org/cgi/content/short/079350v1?rss=1"
Neri Kafkafi
Joseph Agassi
Elissa J Chesler
John C Crabbe
Wim E Crusio
David Eilam
Robert Gerlai
Ilan Golani
Alex Gomez-Marin
Ruth Heller
Fuad Iraqi
Iman Jaljuli
Natasha A Karp
Hugh Morgan
George Nicholson
Donald W Pfaff
Helene S Richter
Philip B Stark
Oliver Stiedl
Victoria Stodden
Lisa M Tarantino
Valter Tucci
William Valdar
Robert W Williams
Hanno Wurbel
Yoav Benjamini
2016-10-05
doi:10.1101/079350
Cold Spring Harbor Laboratory Press
2016-10-05
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<![CDATA[
Employing single-stranded DNA donors for the high-throughput production of conditional knockout alleles in mice
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https://biorxiv.org/cgi/content/short/195651v1?rss=1"
Lanza, D. G.
Gaspero, A.
Lorenzo, I.
Liao, L.
Zheng, P.
Wang, Y.
Deng, Y.
Cheng, C.
Zhang, C.
Rasband, M. N.
Seavitt, J. R.
DeMayo, F. J.
Xu, J.
Dickinson, M. E.
Beaudet, A. L.
Heaney, J. D.
2017-09-29
doi:10.1101/195651
Cold Spring Harbor Laboratory Press
2017-09-29
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<![CDATA[
X-ray 3D imaging of gene expression in whole-mount murine brain by microCT, implication for functional analysis of tRNA endonuclease 54 gene mutated in pontocerebellar hypoplasia.
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https://biorxiv.org/cgi/content/short/2019.12.19.882688v1?rss=1"
Ermakova, O.
Orsini, T.
Fruscoloni, P.
Chiani, F.
Gambadoro, A.
Putti, S.
Cirilli, M.
Mezzi, A.
Kaciulis, S.
Raspa, M.
Ferdinando Scavizzi, F.
Tocchini-Valentini, G. P.
2019-12-20
doi:10.1101/2019.12.19.882688
Cold Spring Harbor Laboratory Press
2019-12-20
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<![CDATA[
A non-invasive digital biomarker for the detection of rest disturbances in the SOD1G93A mouse model of ALS
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https://biorxiv.org/cgi/content/short/2019.12.27.889246v1?rss=1"
Golini, E.
Rigamonti, M.
Iannello, F.
De Rosa, C.
Scavizzi, F.
Raspa, M.
Mandillo, S.
2019-12-27
doi:10.1101/2019.12.27.889246
Cold Spring Harbor Laboratory Press
2019-12-27
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<![CDATA[
MicroRNA-574 Regulates FAM210A Expression and Influences Pathological Cardiac Remodeling
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https://biorxiv.org/cgi/content/short/2020.01.09.900712v1?rss=1"
Wu, J.
Subbaiah, K. C. V.
Jiang, F.
Hedaya, O.
Mohan, A.
Yang, T.
Welle, K.
Ghaemmaghami, S.
Tang, W. H. W.
Small, E.
Yan, C.
Yao, P.
2020-01-10
doi:10.1101/2020.01.09.900712
Cold Spring Harbor Laboratory Press
2020-01-10
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<![CDATA[
The parotid secretory protein BPIFA2 is a salivary surfactant that affects LPS action
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https://biorxiv.org/cgi/content/short/2020.02.08.940163v1?rss=1"
Nandula, S. R.
Huxford, I.
Wheeler, T. T.
Aparicio, C.
Gorr, S.-U.
2020-02-10
doi:10.1101/2020.02.08.940163
Cold Spring Harbor Laboratory Press
2020-02-10
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<![CDATA[
Defective heart chamber growth and myofibrillogenesis after knockout of adprhl1 gene function by targeted disruption of the ancestral catalytic active site.
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https://biorxiv.org/cgi/content/short/2020.02.13.947424v1?rss=1"
Smith, S. J.
Towers, N.
Demetriou, K.
Mohun, T. J.
2020-02-14
doi:10.1101/2020.02.13.947424
Cold Spring Harbor Laboratory Press
2020-02-14
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<![CDATA[
A trans-eQTL network regulates osteoclast multinucleation and bone mass
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https://biorxiv.org/cgi/content/short/2020.02.13.947705v1?rss=1"
Pereira, M.
Ko, J.-H.
Logan, J.
Protheroe, H.
Kim, K.-B.
Tan, A. L. M.
Park, K.-S.
Rotival, M.
Petretto, E.
Bassett, J. H. D.
Williams, G. R.
Behmoaras, J.
2020-02-13
doi:10.1101/2020.02.13.947705
Cold Spring Harbor Laboratory Press
2020-02-13
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<![CDATA[
Long title: The occurrence of tarsal injuries in male mice of C57BL/6N substrains in multiple international mouse facilities
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https://biorxiv.org/cgi/content/short/2020.02.25.964254v1?rss=1"
Herbert, E.
Stewart, M. E.
Hutchison, M.
Flenniken, A.
Qu, D.
Nutter, L.
Mckerlie, C.
Hobson, L.
Kick, B.
Lyons, B.
Wiegand, J.-P.
Doty, R.
Aguilar-Pimentel, J. A.
Hrabe de Angelis, M.
Dickinson, M.
Seavitt, J.
White, J.
Scudamore, C.
Wells, S.
2020-02-25
doi:10.1101/2020.02.25.964254
Cold Spring Harbor Laboratory Press
2020-02-25
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<![CDATA[
Coordination of asparagine uptake and asparagine synthetase expression is required for T cell activation
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https://biorxiv.org/cgi/content/short/2020.02.28.969774v1?rss=1"
48h of activation), TCR-induced mTOR-dependent signals resulted in upregulation of ASNS, that endowed T cells with the capacity to function independently of extracellular Asn. Thus, we have determined that the coordinated upregulation of ASNS expression and uptake of extracellular Asn is required for optimal T cell effector responses.
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Hope, H. C.
Brownlie, R. J.
Steele, L.
Salmond, R. J.
2020-03-01
doi:10.1101/2020.02.28.969774
Cold Spring Harbor Laboratory Press
2020-03-01
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<![CDATA[
Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity.
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https://biorxiv.org/cgi/content/short/2020.03.02.973909v1?rss=1"
A (p.Arg128Gln), c.520G>T (p.Gly174*) in PRUNE1. To gain insights into disease biology, we biochemically characterized missense variants within the conserved N-terminal aspartic acid-histidine-histidine (DHH) motif and provide evidence that they result in the destabilization of protein structure and/or loss of exopolyphosphatase activity. Genetic ablation of Prune1 results in midgestational lethality in mice, associated with perturbations to embryonic growth and vascular development. Our findings suggest that NMIHBA results from hypomorphic variant alleles in humans and underscore the potential key role of PRUNE1 exopolyphoshatase activity in neurodevelopment.
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Nistala, H.
Dronzek, J.
Gonzaga-Jauregui, C.
Man Chim, S.
Rajamani, S.
Nuwayhid, S.
Delgado, D.
Burke, E.
Karaca, E.
Franklin, M. C.
Sarangapani, P.
Podgorski, M.
Tang, Y.
Dominguez, M. G.
Withers, M.
Deckelbaum, R. A.
Scheonherr, C. J.
Gahl, W. A.
Malicdan, M. C.
Zambrowicz, B.
Gale, N. W.
Gibbs, R. A.
Chung, W. K.
Lupski, J. R.
Economides, A. N.
2020-03-04
doi:10.1101/2020.03.02.973909
Cold Spring Harbor Laboratory Press
2020-03-04
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<![CDATA[
Endothelial cell response to Hedgehog ligands depends on their processing
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https://biorxiv.org/cgi/content/short/2020.03.03.974444v1?rss=1"
Hollier, P.-L.
Chapouly, C.
Diop, A.
Guimbal, S.
Cornuault, L.
Gadeau, A.-P.
Renault, M.-A.
2020-03-03
doi:10.1101/2020.03.03.974444
Cold Spring Harbor Laboratory Press
2020-03-03
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<![CDATA[
Genetic disruption of the Blood Brain Barrier leads to protective barrier formation at the Glia Limitans
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https://biorxiv.org/cgi/content/short/2020.03.13.990762v1?rss=1"
Hollier, P. L.
Guimbal, S.
Mora, P.
Diop, A.
Cornuault, L.
Couffinhal, T.
Gadeau, A. P.
Renault, M.-A.
Chapouly, C.
2020-03-15
doi:10.1101/2020.03.13.990762
Cold Spring Harbor Laboratory Press
2020-03-15
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<![CDATA[
The type 2 diabetes gene product STARD10 is a phosphoinositide binding protein that controls insulin secretory granule biogenesis
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https://biorxiv.org/cgi/content/short/2020.03.25.007286v1?rss=1"
Carrat, G. R.
Haythorne, E.
Tomas, A.
Haataja, L.
Andreas, M.
Arvan, P.
Piunti, A.
Cheng, K.
Huang, M.
Pullen, T.
Georgiadou, E.
Stylianides, T.
Amirruddin, N. S.
Salem, V.
Distaso, W.
Cakebread, A.
Heesom, K. J.
Lewis, P. A.
Hodson, D.
Briant, L. J.
Fung, A. C. H.
Sessions, R. B.
Alpy, F.
Kong, A. P. S.
Benke, P. I.
Torta, F.
Teo, A. K. K.
Leclerc, I.
Solimena, M.
Wigley, D. B.
Rutter, G. A.
2020-03-25
doi:10.1101/2020.03.25.007286
Cold Spring Harbor Laboratory Press
2020-03-25
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<![CDATA[
Neuroanatomy and Behaviour in Mice with a Haploinsufficiency of AT-Rich Interactive Domain 1B (ARID1B) Throughout Development
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https://biorxiv.org/cgi/content/short/2020.03.31.017905v1?rss=1"
Ellegood, J.
Petkova, S. P.
Kinman, A.
Qiu, L. R.
Wade, A. A.
Fernandes, D. J.
Lindenmaier, Z.
Creighton, A.
Nutter, L.
Nord, A. S.
Silverman, J. L.
Lerch, J. P.
2020-04-01
doi:10.1101/2020.03.31.017905
Cold Spring Harbor Laboratory Press
2020-04-01
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<![CDATA[
Desert Hedgehog-driven endothelium integrity is enhanced by Gas1 but negatively regulated by Cdon
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https://biorxiv.org/cgi/content/short/2020.04.20.050542v1?rss=1"
Chapouly, C.
Hollier, P.-L.
Guimbal, S.
Cornuault, L.
Gadeau, A.-P.
Renault, M.-A.
2020-04-20
doi:10.1101/2020.04.20.050542
Cold Spring Harbor Laboratory Press
2020-04-20
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<![CDATA[
Osteocyte Transcriptome Mapping Identifies a Molecular Landscape Controlling Skeletal Homeostasis and Susceptibility to Skeletal Disease
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https://biorxiv.org/cgi/content/short/2020.04.20.051409v1?rss=1"
Youlten, S. E.
Kemp, J. P.
Logan, J. G.
Ghirardello, E. J.
Sergio, C. M.
Dack, M. R. G.
Guilfoyle, S. E.
Leitch, V. D.
Butterfield, N. C.
Komla-Ebri, D.
Chai, R. C.
Corr, A. P.
Smith, J. T.
Morris, J. A.
McDonald, M. M.
Quinn, J. M. W.
McGlade, A. R.
Bartonicek, N.
Jansson, M.
Hatzikotoulas, K.
Irving, M. D.
Beleza-Meireles, A.
Rivadeneira, F.
Duncan, E. L.
Richards, J. B.
Adams, D. J.
Lelliott, C. J.
Brink, R.
Phan, T. G.
Eisman, J. A.
Evans, D. M.
Zeggini, E.
Baldock, P. A.
Bassett, J. H. D.
Williams, G. R.
Croucher, P. I.
2020-04-22
doi:10.1101/2020.04.20.051409
Cold Spring Harbor Laboratory Press
2020-04-22
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<![CDATA[
Genes adapt to outsmart gene targeting strategies in mutant mouse strains by skipping exons to reinitiate transcription and translation
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https://biorxiv.org/cgi/content/short/2020.04.22.041087v1?rss=1"
Hosur, V.
Low, B. E.
Li, D.
Stafford, G. A.
Kohar, V.
Shultz, L. D.
Wiles, M. V.
2020-04-24
doi:10.1101/2020.04.22.041087
Cold Spring Harbor Laboratory Press
2020-04-24
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<![CDATA[
LAMA: Automated image analysis for developmentalphenotyping of mouse embryos
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https://biorxiv.org/cgi/content/short/2020.05.04.075853v1?rss=1"
Horner, N. R.
Venkataraman, S.
Casero, R.
Brown, J. M.
Johnson, S.
Teboul, L.
Wells, S.
Brown, S. D. M.
Westerberg, H.
Mallon, A.-M.
2020-05-04
doi:10.1101/2020.05.04.075853
Cold Spring Harbor Laboratory Press
2020-05-04
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<![CDATA[
OpenStats: A Robust and Scalable Software Package for Reproducible Analysis of High-Throughput Phenotypic Data
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https://biorxiv.org/cgi/content/short/2020.05.13.091157v1?rss=1"
Haselimashhadi, H.
Mason, J. C.
Mallon, A.-M.
Smedley, D.
Meehan, T. F.
Parkinson, H.
2020-05-15
doi:10.1101/2020.05.13.091157
Cold Spring Harbor Laboratory Press
2020-05-15
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<![CDATA[
Differential Effects of RASA3 Mutations on Hematopoiesis are Profoundly Influenced by Genetic Background and Molecular Variant
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https://biorxiv.org/cgi/content/short/2020.05.14.095745v1?rss=1"
Robledo, R. F.
Ciciotte, S. L.
Graber, J. H.
Zhao, Y.
Lambert, A. J.
Gwynn, B.
Maki, N. J.
Blanc, L.
Peters, L.
2020-05-14
doi:10.1101/2020.05.14.095745
Cold Spring Harbor Laboratory Press
2020-05-14
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<![CDATA[
Sexually dimorphic roles for the type 2 diabetes-associated C2cd4b gene in murine glucose homeostasis
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https://biorxiv.org/cgi/content/short/2020.05.18.099200v1?rss=1"
Mousavy-Gharavy, N. S.
Owen, B.
Millership, S. J.
Chabosseau, P.
Pizza, G.
Martinez-Sanchez, A.
Tasoez, E.
Georgiadou, E.
Hu, M.
Fine, N. H. F.
Jacobson, D. A.
Dickerson, M.
Idevall, O.
Montoya, A.
Kramer, H.
Mehta, Z.
Withers, D.
Ninov, N.
Gadue, P.
Cardenas-Diaz, F. L.
Cruciani-Guglielmacci, C.
Magnan, C.
Ibberson, M.
Leclerc, I.
Voz, M.
Rutter, G. A.
2020-05-19
doi:10.1101/2020.05.18.099200
Cold Spring Harbor Laboratory Press
2020-05-19
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<![CDATA[
Targeting the RHOA pathway improves learning and memory in Kctd13 and 16p11.2 deletion mouse models.
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https://biorxiv.org/cgi/content/short/2020.05.22.110098v1?rss=1"
Martin Lorenzo, S.
Nalesso, V.
Chevalier, C.
Birling, M.-C.
Herault, Y.
2020-05-24
doi:10.1101/2020.05.22.110098
Cold Spring Harbor Laboratory Press
2020-05-24
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<![CDATA[
Sex and Power: sexual dimorphism in trait variability and its eco-evolutionary and statistical implications
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https://biorxiv.org/cgi/content/short/2020.05.23.106146v1?rss=1"
26,900 mice, using meta-analysis methods. Neither hypothesis could universally explain patterns in trait variability. Sex-bias in variability was trait-dependent. While greater male variability was found in morphological traits, females were much more variable in immunological traits. Sex-specific variability has eco-evolutionary ramifications including sex-dependent responses to climate change, as well as statistical implications including power analysis considering sex difference in variance.
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Zajitschek, S. R. K.
Zajitschek, F.
Bonduriansky, R.
Brooks, R. C.
Cornwell, W. K.
Falster, D. S.
Lagisz, M.
Mason, J.
Senior, A.
Noble, D.
Nakagawa, S.
2020-05-26
doi:10.1101/2020.05.23.106146
Cold Spring Harbor Laboratory Press
2020-05-26
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<![CDATA[
Loss of coiled-coil protein Cep55 impairs abscission processes and results in p53-dependent apoptosis in developing cortex
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https://biorxiv.org/cgi/content/short/2020.06.02.129346v1?rss=1"
Little, J. N.
McNeely, K. C.
Michel, N.
Bott, C. J.
Lettieri, K. S.
Hecht, M. R.
Martin, S. A.
Dwyer, N. D.
2020-06-03
doi:10.1101/2020.06.02.129346
Cold Spring Harbor Laboratory Press
2020-06-03
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<![CDATA[
Notch Regulates Vascular Collagen IV Basement Membrane Through Modulation of Lysyl Hydroxylase 3 Trafficking
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https://biorxiv.org/cgi/content/short/2020.06.22.165431v1?rss=1"
Gross, S. J.
Webb, A. M.
Peterlin, A. D.
Durrant, J. R.
Judson, R. J.
Kushner, E. J.
2020-06-22
doi:10.1101/2020.06.22.165431
Cold Spring Harbor Laboratory Press
2020-06-22
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<![CDATA[
Systems genetics analyses in Diversity Outbred mice inform human bone mineral density GWAS and identify Qsox1 as a novel determinant of bone strength
]]>
https://biorxiv.org/cgi/content/short/2020.06.24.169839v1?rss=1"
Al-Barghouthi, B. M.
Mesner, L. M.
Calabrese, G. M.
Brooks, D. J.
Tommasini, S. M.
Bouxsein, M. L.
Horowitz, M. C.
Rosen, C. J.
Nguyen, K.
Haddox, S.
Farber, E. A.
Onengut-Gumuscu, S.
Pomp, D.
Farber, C.
2020-06-24
doi:10.1101/2020.06.24.169839
Cold Spring Harbor Laboratory Press
2020-06-24
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<![CDATA[
Active integrins regulate white adipose tissue insulin sensitivity and brown fat thermogenesis
]]>
https://biorxiv.org/cgi/content/short/2020.06.29.178020v1?rss=1"
Ruiz-Ojeda, F. J.
Wang, J.
Baecker, T.
Krueger, M.
Zamani, S.
Rosowski, S.
Gruber, T.
Feuchtinger, A.
Schulz, T. J.
Faessler, R.
Müller, T. D.
Garcia-Caceres, C.
Meier, M.
Mathias, B.
Ussar, S.
2020-06-30
doi:10.1101/2020.06.29.178020
Cold Spring Harbor Laboratory Press
2020-06-30
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<![CDATA[
Cancer-associated fibroblasts in pancreatic ductal adenocarcinoma determine response to SLC7A11 inhibition
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https://biorxiv.org/cgi/content/short/2020.07.12.199638v1?rss=1"
George Sharbeen
Joshua A McCarroll
Anouschka Akerman
Chantal Kopecky
Janet Youkhana
Jeff Holst
Cyrille Boyer
Mert Erkan
David Goldstein
Paul Timpson
Thomas R Cox
Brooke A Pereira
Jessica L Chitty
Sigrid Fey
Arafath K Najumudeen
Andrew D Campbell
Owen J Sansom
Rosa Mistica C Ignacio
Stephanie Naim
Jie Liu
Nelson Russia
Julia Lee
Angela Chou
Amber Johns
Anthony Gill
Estrella Gonzales-Aloy
John Kokkinos
Val Gebski
Nigel Turner
Minoti Apte
Thomas P Davis
Jennifer P Morton
Koroush Haghighi
Australian Pancreatic Cancer Genome Initiative
Phoebe A Phillips
2020-07-12
doi:10.1101/2020.07.12.199638
Cold Spring Harbor Laboratory Press
2020-07-12
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<![CDATA[
Collagen (I) homotrimer does not cause bone fragility but potentiates the osteogenesis imperfecta (oim) mutant allele
]]>
https://biorxiv.org/cgi/content/short/2020.07.13.198283v1?rss=1"
Lee, K. J.
Rambault, L.
Bou-Gharios, G.
Clegg, P. D.
Akhtar, R.
Czanner, G.
van 't Hof, R. J.
Canty-Laird, E. G.
2020-07-14
doi:10.1101/2020.07.13.198283
Cold Spring Harbor Laboratory Press
2020-07-14
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<![CDATA[
GigaSOM.jl: High-perfomance clustering and visualization of huge cytometry datasets
]]>
https://biorxiv.org/cgi/content/short/2020.08.03.234187v1?rss=1"
Kratochvil, M.
Hunewald, O.
Heirendt, L.
Verissimo, V.
Vondrasek, J.
Satagopam, V. P.
Schneider, R.
Trefois, C.
Ollert, M.
2020-08-04
doi:10.1101/2020.08.03.234187
Cold Spring Harbor Laboratory Press
2020-08-04
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<![CDATA[
Human Embryonic Expression Identifies Novel Essential Gene Candidates
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https://biorxiv.org/cgi/content/short/2020.08.15.252338v1?rss=1"
Penon Portmann, M.
Chang, J.
Blair, D. R.
Rodriguez-Alonso, B.
Cakmak, H.
Rajkovic, A.
Shieh, J. T.
2020-08-15
doi:10.1101/2020.08.15.252338
Cold Spring Harbor Laboratory Press
2020-08-15
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<![CDATA[
Cytoplasmic polyadenylation by TENT5A is required for proper bone formation
]]>
https://biorxiv.org/cgi/content/short/2020.08.18.256115v1?rss=1"
Dziembowski, A.
Gewartowska, O.
Krawczyk, P.
Mroczek, S.
Kusio-Kobiałka, M.
Tarkowski, B.
Aranaz Novaliches, G.
Spoutil, F.
Benada, O.
Kofronova, O.
Szwedziak, P.
Cysewski, D.
Gruchota, J.
Szpila, M.
Chlebowski, A.
Sedlacek, R.
Prochazka, J.
2020-08-20
doi:10.1101/2020.08.18.256115
Cold Spring Harbor Laboratory Press
2020-08-20
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<![CDATA[
gEAR: gene Expression Analysis Resource portal for community-driven, multi-omic data exploration
]]>
https://biorxiv.org/cgi/content/short/2020.08.28.272039v1?rss=1"
Orvis, J.
Gottfried, B.
Kancherla, J.
Adkins, R. S.
Song, Y.
Dror, A. A.
Olley, D.
Rose, K.
Chrysostomou, E.
Kelley, M. C.
Milon, B.
Matern, M. S.
Azaiez, H.
Herb, B.
Colantuoni, C.
Carter, R. L.
Ament, S. A.
Kelley, M. W.
White, O.
Bravo, H. C.
Mahurkar, A.
Hertzano, R.
2020-08-31
doi:10.1101/2020.08.28.272039
Cold Spring Harbor Laboratory Press
2020-08-31
-
<![CDATA[
DYRK2 is a ciliary kinase involved 1 in vertebrate Hedgehog signal transduction
]]>
https://biorxiv.org/cgi/content/short/2020.08.31.275511v1?rss=1"
Morante, N.
Sigg, M. A.
Strauskulage, L.
Raleigh, D. R.
Reiter, J. F.
2020-08-31
doi:10.1101/2020.08.31.275511
Cold Spring Harbor Laboratory Press
2020-08-31
-
<![CDATA[
In silico candidate variant and gene identification using inbred mouse strains
]]>
https://biorxiv.org/cgi/content/short/2020.09.04.282731v1?rss=1"
Munz, M.
Khodaygani, M.
Aherrahrou, Z.
Busch, H.
Wohlers, I.
2020-09-04
doi:10.1101/2020.09.04.282731
Cold Spring Harbor Laboratory Press
2020-09-04
-
<![CDATA[
COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay
]]>
https://biorxiv.org/cgi/content/short/2020.09.14.297234v1?rss=1"
Marom, R.
Burrage, L. C.
Clement, A.
Blanco-Sanchez, B.
Venditti, R.
Jain, M.
Grafe, I.
Scott, D.
Rosenfeld, J. A.
Sutton, V. R.
Shinawi, M.
Mirzaa, G.
DeVile, C.
Roberts, R.
Calder, A. D.
Allgrove, J.
Lanza, D. G.
Li, X.
Joeng, K. S.
Lee, Y.-C.
Song, I.-W.
Sliepka, J. M.
Batkovshyte, D.
Jin, Z.
Dawson, B. C.
Chen, S.
Chen, Y.
Jiang, M.-M.
Munivez, E. M.
Tran, A. A.
Emrick, L. T.
Murdock, D. R.
Hanchard, N. A.
Zapata, G. E.
Mehta, N. R.
Weis, M. A.
Kuzawa, C.
Scott, A.
Tremp, B. A.
Phillips, J. B.
Wegner, J.
Taylor-Miller, T.
Gibbs, R. A.
muzny, d. m.
2020-09-15
doi:10.1101/2020.09.14.297234
Cold Spring Harbor Laboratory Press
2020-09-15
-
<![CDATA[
Large-scale discovery of mouse transgenic integration sites reveals frequent structural variation and insertional mutagenesis
]]>
https://biorxiv.org/cgi/content/short/236307v1?rss=1"
Goodwin, L. O.
Splinter, E.
Davis, T. L.
Urban, R.
He, H.
Braun, R. E.
Chesler, E. J.
Kumar, V.
van Min, M.
Ndukum, J.
Philip, V. M.
Reinholdt, L. G.
Svenson, K.
White, J. K.
Sasner, M.
Lutz, C.
Murray, S. A.
2017-12-18
doi:10.1101/236307
Cold Spring Harbor Laboratory Press
2017-12-18
-
<![CDATA[
The landscape of pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases
]]>
https://biorxiv.org/cgi/content/short/311332v1?rss=1"
Jordan, D. M.
Verbanck, M.
Do, R.
2018-04-30
doi:10.1101/311332
Cold Spring Harbor Laboratory Press
2018-04-30
-
<![CDATA[
Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities
]]>
https://biorxiv.org/cgi/content/short/388561v1?rss=1"
Stewart, M.
Lau, P. Y.
Banks, G.
Bains, R. S.
Castroflorio, E.
Oliver, P. L.
Dixon, C. L.
Kruer, M. C.
Kullman, D. M.
Acevedo-Arozena, A.
Wells, S. E.
Corrochano, S.
Nolan, P.
2018-08-09
doi:10.1101/388561
Cold Spring Harbor Laboratory Press
2018-08-09
-
<![CDATA[
Mutant Screen Reveals the Piccolo’s Control over Depression and Brain-Gonad Crosstalk
]]>
https://biorxiv.org/cgi/content/short/405985v1?rss=1"
A. Medrano, G.
Singh, M.
J. Plautz, E.
B. Good, L.
M. Chapman, K.
Chaudhary, J.
Jaichander, P.
M. Powell, H.
Pudasaini, A.
M. Shelton, J.
A. Richardson, J.
Xie, X.-J.
Ivics, Z.
Braun, C.
Ackermann, F.
C. Garner, C.
Izsvak, Z.
Hamra, F. K.
2018-08-31
doi:10.1101/405985
Cold Spring Harbor Laboratory Press
2018-08-31
-
<![CDATA[
Noninvasive sleep monitoring in large-scale screening of knock-out mice reveals novel sleep-related genes
]]>
https://biorxiv.org/cgi/content/short/517680v1?rss=1"
Joshi, S. S.
Sethi, M.
Striz, M.
Cole, N.
Denegre, J. M.
Ryan, J.
Lhamon, M. E.
Agarwal, A.
Murray, S.
Braun, R. E.
Fardo, D. W.
Kumar, V.
Donohue, K. D.
Sunderam, S.
Chesler, E. J.
Svenson, K. L.
O'Hara, B. F.
2019-01-11
doi:10.1101/517680
Cold Spring Harbor Laboratory Press
2019-01-11
-
<![CDATA[
Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects
]]>
https://biorxiv.org/cgi/content/short/579003v1?rss=1"
Lewis, M. A.
Di Domenico, F.
Ingham, N. J.
Prosser, H. M.
Steel, K. P.
2019-03-16
doi:10.1101/579003
Cold Spring Harbor Laboratory Press
2019-03-16
-
<![CDATA[
A comprehensive plasma metabolomics dataset for a cohort of mouse knockouts within the international mouse phenotyping consortium
]]>
https://biorxiv.org/cgi/content/short/624437v1?rss=1"
Barupal, D. K.
Zhang, Y.
Shen, T.
Fan, S.
Roberts, B. S.
Fitzgerald, P.
Wancewicz, B.
Valdiviez, L.
Wohlgemuth, G.
Byram, G.
Choy, Y.
Haffner, B.
Showalter, M. R.
Vaniya, A.
Bloszies, C. S.
Folz, J. S.
Kind, T.
Fiehn, O.
2019-05-02
doi:10.1101/624437
Cold Spring Harbor Laboratory Press
2019-05-02
-
<![CDATA[
Progressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and function
]]>
https://biorxiv.org/cgi/content/short/647008v1?rss=1"
nView larger version (37K):norg.highwire.dtl.DTLVardef@176b8eorg.highwire.dtl.DTLVardef@1967120org.highwire.dtl.DTLVardef@1dcf4e5org.highwire.dtl.DTLVardef@151fce2_HPS_FORMAT_FIGEXP M_FIG C_FIG
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Alevy, J.
Burger, C. A.
Albrecht, N. E.
Jiang, D.
Samuel, M. A.
2019-05-24
doi:10.1101/647008
Cold Spring Harbor Laboratory Press
2019-05-24
-
<![CDATA[
Nubp2 is required for cranial neural crest survival in the mouse.
]]>
https://biorxiv.org/cgi/content/short/656652v1?rss=1"
DiStasio, A.
Paulding, D.
Chatuverdi, P.
Stottmann, R. W.
2019-05-31
doi:10.1101/656652
Cold Spring Harbor Laboratory Press
2019-05-31
-
<![CDATA[
Soft Windowing Application to Improve Analysis of High-throughput Phenotyping Data
]]>
https://biorxiv.org/cgi/content/short/656678v1?rss=1"
Haselimashhadi, H.
Mason, J. C.
Munoz-Fuentes, V.
Lopez-Gomez, F.
Babalola, K.
Acar, E. F.
Kumar, V.
White, J.
Flenniken, A. M.
King, R.
Straiton, E.
Seavitt, J. R.
Gaspero, A.
Garza, A.
Christianson, A. E.
Hsu, C.-W.
Reynolds, C. L.
Lanza, D. G.
Lorenzo, I.
Green, J. R.
Gallegos, J. J.
Bohat, R.
Samaco, R. C.
Veeraragavan, S.
Kim, J. K.
Miller, G.
Fuchs, H.
Garrett, L.
Becker, L.
Kang, Y.
Clary, D.
Cho, S.
Tamura, M.
Tanaka, N.
Soo, K. D.
Bezginov, A.
Bou About, G.
Champy, M.-F.
Vasseur, L.
Leblanc, S.
Meziane, H.
Selloum, M.
Reilly, P. T.
Spielmann,
2019-06-13
doi:10.1101/656678
Cold Spring Harbor Laboratory Press
2019-06-13
-
<![CDATA[
Tolerance of nonsynonymous variation is closely correlated between human and mouse orthologues
]]>
https://biorxiv.org/cgi/content/short/657981v1?rss=1"
Powell, G.
Simon, M.
Pulit, S.
Mallon, A.-M.
Lindgren, C. M.
2019-06-03
doi:10.1101/657981
Cold Spring Harbor Laboratory Press
2019-06-03
-
<![CDATA[
GDF15 and the beneficial actions of metformin in pre-diabetes
]]>
https://biorxiv.org/cgi/content/short/677831v1?rss=1"
Coll, A. P.
Chen, M.
Taskar, P.
Rimmington, D.
Patel, S.
Tadross, J.
Cimino, I.
Yang, M.
Welsh, P.
Virtue, S.
Goldspink, D. A.
Miedzybrodzka, E.
Tung, Y. C. L.
Rodriguez-Cuenca, S.
Tomaz, R. A.
Harding, H. P.
Melvin, A.
Yeo, G. S. H.
Preiss, D.
Vidal-Puig, A.
Vallier, L.
Ron, D.
Gribble, F. M.
Reimann, F.
Sattar, N.
Savage, D. B.
Allan, B. B.
O'Rahilly, S.
2019-06-21
doi:10.1101/677831
Cold Spring Harbor Laboratory Press
2019-06-21
-
<![CDATA[
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation
]]>
https://biorxiv.org/cgi/content/short/688010v1?rss=1"
25%), most of which had never hitherto been implicated in immunology. Furthermore, they were conspicuously enriched in genes for which humans show poor tolerance to loss-of-function. The immunophenotyping platform also exposed dense correlation networks linking immune parameters with one another and with specific physiologic traits. By limiting the freedom of individual immune parameters, such linkages impose genetically regulated "immunological structures", whose integrity was found to be associated with immunocompetence. Hence, our findings provide an expanded genetic resource and structural perspective for understanding and monitoring immune variation in health and disease.
]]>
Abeler-Dörner, L.
Laing, A.
Lorenc, A.
Ushakov, D. S.
Clare, S.
Speak, A.
Duque, M.
White, J. K.
Ramirez-Solis, R.
Saran, N.
Bull, K. R.
Moron, B.
Iwasaki, J.
Barton, P. R.
Caetano, S.
Hng, K. I.
Cambridge, E.
Forman, S.
Crockford, T. L.
Griffiths, M.
Kane, L.
Harcourt, K.
Brandt, C.
Notley, G.
Babalola, K. O.
Warren, J.
Mason, J. C.
Meeniga, A.
Karp, N. A.
Melvin, D.
Cawthorne, E.
Weinrick, B.
Rahim, A.
Drissler, S.
Meskas, J.
Yue, A.
Lux, M.
Song-Zhao, G.
Chan, A.
Ballesteros Reviriego, C.
Abeler, J.
Wilson, H.
Przemska-Kosicka, A.
Edmans, M.
Stre
2019-07-02
doi:10.1101/688010
Cold Spring Harbor Laboratory Press
2019-07-02
-
<![CDATA[
Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
]]>
https://biorxiv.org/cgi/content/short/693937v1?rss=1"
Voisin, N.
Schnur, R. E.
Douzgou, S.
Hiatt, S. M.
Rustad, C. F.
Brown, N. J.
Earl, D. L.
Keren, B.
Levchenko, O.
Geuer, S.
Amor, D.
Brusco, A.
Bebin, E. M.
Cappuccio, G.
Charrow, J.
Chatron, N.
Cooper, G. M.
Dadali, E.
Delafontaine, J.
Del Giudice, E.
Douglas, G.
Funari, T.
Giannuzzi, G.
Guex, N.
Heron, D.
Holla, O. L.
Hurst, A. C. E.
Juusola, J.
Kronn, D.
Lavrov, A.
Lee, C.
Merckoll, E.
Mikhaleva, A.
Norman, J.
Pradervand, S.
Sanders, V.
Sirchia, F.
Takenouchi, T.
Tanaka, A. J.
Taska-Tench, H.
Tonne, E.
Tveten, K.
Vitiello, G.
Uehara, T.
Nava, C.
Y
2019-07-17
doi:10.1101/693937
Cold Spring Harbor Laboratory Press
2019-07-17
-
<![CDATA[
Autophagy dark genes: Can we find them with machine learning?
]]>
https://biorxiv.org/cgi/content/short/715037v1?rss=1"
Oprea, T. I.
Yang, J. J.
Byrd, D. R.
Deretic, V. P.
2019-07-26
doi:10.1101/715037
Cold Spring Harbor Laboratory Press
2019-07-26
-
<![CDATA[
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
]]>
https://biorxiv.org/cgi/content/short/720839v1?rss=1"
Xiang, J.
Peng, J.
Peng, Z.
2019-08-01
doi:10.1101/720839
Cold Spring Harbor Laboratory Press
2019-08-01
-
<![CDATA[
Cornichon Homolog-3 (CNIH3) Modulates Spatial Memory in Female Mice
]]>
https://biorxiv.org/cgi/content/short/724104v1?rss=1"
Frye, H. E.
Williams, S. B.
Trousdale, C. R.
Nelson, E. C.
Dougherty, J. D.
Moron, J. A.
2019-08-05
doi:10.1101/724104
Cold Spring Harbor Laboratory Press
2019-08-05
-
<![CDATA[
Major histocompatibility complex class I-restricted protection against murine cytomegalovirus requires missing-self recognition by the natural killer cell inhibitory Ly49 receptors
]]>
https://biorxiv.org/cgi/content/short/753970v1?rss=1"
Parikh, B. A.
Bern, M. D.
Piersma, S. J.
Yang, L.
Beckman, D. L.
Poursine-Laurent, J.
Plougastel-Douglas, B.
Yokoyama, W. M. M.
2019-09-04
doi:10.1101/753970
Cold Spring Harbor Laboratory Press
2019-09-04
-
<![CDATA[
Disruption of Capn15 in mice leads to brain and eye deficits
]]>
https://biorxiv.org/cgi/content/short/763888v1?rss=1"
Zha, C.
Farah, C. A.
Fonov, V.
Holt, R.
Ceroni, F.
Ragges, N.
Rudko, D.
Sossin, W. S.
2019-09-10
doi:10.1101/763888
Cold Spring Harbor Laboratory Press
2019-09-10
-
<![CDATA[
Interferon stimulated genes mark pathogenic cells of the emergency myelopoietic response to sterile tissue injury in mice and humans
]]>
https://biorxiv.org/cgi/content/short/765404v1?rss=1"
Ng, R.
Calcagno, D. M.
Toomu, A.
Huang, K.
Aguirre, A.
Daniels, L.
Fu, Z.
King, K.
2019-09-11
doi:10.1101/765404
Cold Spring Harbor Laboratory Press
2019-09-11
-
<![CDATA[
Next generation sequencing reveals NRAP as a candidate gene for hypertrophic cardiomyopathy in elderly patients
]]>
https://biorxiv.org/cgi/content/short/789065v1?rss=1"
Sharma, A.
Koranchery, R.
Rajendran, R.
Mohanan, K. S.
Shenthar, J.
Perundurai, D. S.
2019-10-02
doi:10.1101/789065
Cold Spring Harbor Laboratory Press
2019-10-02
-
<![CDATA[
Identification of a core module for bone mineral density through the integration of a co-expression network and GWAS data
]]>
https://biorxiv.org/cgi/content/short/803197v1?rss=1"
Sabik, O. L.
Calabrese, G. M.
Taleghani, E.
Ackert-Bicknell, C. L.
Farber, C. R.
2019-10-13
doi:10.1101/803197
Cold Spring Harbor Laboratory Press
2019-10-13
-
<![CDATA[
Accelerating functional gene discovery in osteoarthritis
]]>
https://biorxiv.org/cgi/content/short/836221v1?rss=1"
Butterfield, N. C.
Curry, K. F.
Steinberg, J.
Dewhurst, H.
Komla-Ebri, D.
Mannan, N. S.
Adoum, A.-T.
Leitch, V. D.
Logan, J. G.
Waung, J. A.
Ghirardello, E.
Southam, L.
Youlten, S. E.
Wilkinson, J. M.
McAninch, E. A.
Vancollie, V. E.
Kussy, F.
White, J. K.
Adams, D. J.
Lelliott, C. J.
Jacques, R.
Bianco, A. C.
Boyde, A.
Zeggini, E.
Croucher, P. I.
Williams, G. R.
Bassett, J. H. D.
2019-11-10
doi:10.1101/836221
Cold Spring Harbor Laboratory Press
2019-11-10
-
<![CDATA[
A big-data approach to understanding metabolic rate and response to obesity in laboratory mice
]]>
https://biorxiv.org/cgi/content/short/839076v1?rss=1"
Corrigan, J. K.
Ramachandran, D.
He, Y.
Palmer, C.
Jurczak, M. J.
Li, B.
Friedline, R. H.
Kim, J. K.
Ramsey, J. J.
Lantier, L.
McGuinness, O. P.
Banks, A. S.
Mouse Metabolic Phenotyping Center Energy Balance Working Group,
2019-11-12
doi:10.1101/839076
Cold Spring Harbor Laboratory Press
2019-11-12
-
<![CDATA[
A resource of targeted mutant mouse lines for 5,061 genes
]]>
https://biorxiv.org/cgi/content/short/844092v1?rss=1"
Birling, M.-C.
Yoshiki, A.
Adams, D. J.
Ayabe, S.
Beaudet, A. L.
Bottomley, J.
Bradley, A.
Brown, S. D. M.
Bürger, A.
Bushell, W.
Chiani, F.
Chin, H.-J. G.
Christou, S.
Codner, G. F.
DeMayo, F. J.
Dickinson, M.
Doe, B.
Donahue, L. R.
Fray, M. D.
Gambadoro, A.
Gao, X.
Gertsenstein, M.
Gomez-Segura, A.
Goodwin, L. O.
Heaney, J. D.
Hérault, Y.
Hrabe de Angelis, M.
Jiang, S.-T.
Justice, M. J.
Kasparek, P.
King, R. E.
Kühn, R.
Lee, H.
Lee, Y. J.
Liu, Z.
Lloyd, K. C. K.
Lorenzo, I.
Mallon, A.-M.
McKerlie, C.
Meehan, T. F.
Newman, S.
Nutter, L. M
2019-11-22
doi:10.1101/844092
Cold Spring Harbor Laboratory Press
2019-11-22
-
<![CDATA[
Whole genome sequencing analysis of the cardiometabolic proteome
]]>
https://biorxiv.org/cgi/content/short/854752v1?rss=1"
Gilly, A. L.
Park, Y.-C.
Png, G.
Bjornland, T.
Southam, L.
Suveges, D.
Neumeyer, S.
Fischer, I.
Barysenka, A.
Rayner, N. W.
Tsafantakis, E.
Karaleftheri, M.
Zeggini, E.
2019-11-27
doi:10.1101/854752
Cold Spring Harbor Laboratory Press
2019-11-27
-
<![CDATA[
Dissecting molecular regulatory mechanisms underlying noncoding susceptibility SNPs associated with 19 autoimmune diseases using multi-omics integrative analysis
]]>
https://biorxiv.org/cgi/content/short/871384v1?rss=1"
Chen, X.-F.
Guo, M.-R.
Duan, Y.-Y.
Jiang, F.
Wu, H.
Dong, S.-S.
Thynn, H. N.
Liu, C.-C.
Zhang, L.
Guo, Y.
Yang, T.-L.
2019-12-10
doi:10.1101/871384
Cold Spring Harbor Laboratory Press
2019-12-10
-
<![CDATA[
Neuronal actin dynamics, spine density and neuronal dendritic complexity are regulated by CAP2
]]>
https://biorxiv.org/cgi/content/short/027946v1?rss=1"
Atul Kumar
Lars Paeger
Kosmas Kosmas
Peter Kloppenburg
Angelika Noegel
Vivek Peche
2015-10-01
doi:10.1101/027946
Cold Spring Harbor Laboratory Press
2015-10-01
-
<![CDATA[
The Monarch Initiative: Insights across species reveal human disease mechanisms
]]>
https://biorxiv.org/cgi/content/short/055756v1?rss=1"
Mungall, C.
McMurry, J.
Koehler, S.
Balhoff, J.
Borromeo, C.
Brush, M.
Carbon, S.
CONLIN, T.
Dunn, N.
Engelstad, M.
Foster, E.
Gourdine, J.-P.
Jacobsen, J.
Keith, D.
Laraway, B.
Lewis, S.
Nguyen Xuan, J.
Shefchek, K.
Vasilevsky, N.
Yuan, Z.
Washington, N.
Hochheiser, H.
Groza, T.
Smedley, D.
Robinson, P.
Haendel, M.
2016-11-03
doi:10.1101/055756
Cold Spring Harbor Laboratory Press
2016-11-03
-
<![CDATA[
Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data
]]>
https://biorxiv.org/cgi/content/short/075523v1?rss=1"
Christopher A. Cassa
Donate Weghorn
Daniel J. Balick
Daniel M. Jordan
David Nusinow
Kaitlin E. Samocha
Anne O'Donnell Luria
Daniel G. MacArthur
Mark J. Daly
David R. Beier
Shamil R. Sunyaev
2016-09-16
doi:10.1101/075523
Cold Spring Harbor Laboratory Press
2016-09-16
-
<![CDATA[
New genes and functional innovation in mammals
]]>
https://biorxiv.org/cgi/content/short/090860v1?rss=1"
Villanueva-Canas, J. L.
Ruiz-Orera, J.
Agea, I.
Gallo, M.
Andreu, D.
Alba, M.
2016-12-01
doi:10.1101/090860
Cold Spring Harbor Laboratory Press
2016-12-01
-
<![CDATA[
Systematic Characterization Of Human 21st Chromosome Orthologs In Caenorhabditis elegans
]]>
https://biorxiv.org/cgi/content/short/136911v1?rss=1"
Nordquist, S.
Griffith, A.
Pierce, J.
2017-05-11
doi:10.1101/136911
Cold Spring Harbor Laboratory Press
2017-05-11
-
<![CDATA[
Abelson tyrosine-protein kinase 2 Regulates Myoblast Proliferation and Controls Muscle Fiber Length
]]>
https://biorxiv.org/cgi/content/short/159822v1?rss=1"
Burden, S. J.
Lee, J. K.
2017-07-05
doi:10.1101/159822
Cold Spring Harbor Laboratory Press
2017-07-05
-
<![CDATA[
An unbiased reconstruction of the T helper cell type 2 differentiation network
]]>
https://biorxiv.org/cgi/content/short/196022v1?rss=1"
Henriksson, J.
Chen, X.
Gomes, T.
Miragaia, R.
Ullah, U.
Pramanik, J.
Meyer, K.
Yusa, K.
Lahesmaa, R.
Teichmann, S. A.
2017-10-04
doi:10.1101/196022
Cold Spring Harbor Laboratory Press
2017-10-04
-
<![CDATA[
PHF3 regulates neuronal gene expression through the new Pol II CTD reader domain SPOC
]]>
https://biorxiv.org/cgi/content/short/2020.02.11.943159v1?rss=1"
Appel, L.-M.
Franke, V.
Bruno, M.
Grishkovskaya, I.
Kasiliauskaite, A.
Schoeberl, U. E.
Puchinger, M. G.
Kostrhon, S.
Beltzung, E.
Mechtler, K.
Lin, G.
Vlasova, A.
Leeb, M.
Pavri, R.
Stark, A.
Akalin, A.
Stefl, R.
Bernecky, C.
Djinovic-Carugo, K.
Slade, D.
2020-02-12
doi:10.1101/2020.02.11.943159
Cold Spring Harbor Laboratory Press
2020-02-12
-
<![CDATA[
Gene expression imputation across multiple brain regions reveals schizophrenia risk throughout development.
]]>
https://biorxiv.org/cgi/content/short/222596v1?rss=1"
Huckins, L. M.
Dobbyn, A.
Ruderfer, D.
Hoffman, G.
Wang, W.
Pardinas, A. F.
Rajagopal, V. M.
Als, T. D.
Hoang, H. T.
Girdhar, K.
Boocock, J.
Roussos, P.
Fromer, M.
Kramer, R.
Domenici, E.
Gamazon, E.
Purcell, S.
CommonMind Consortium,
Schizophrenia Working Group of the Psychiatric Gen,
iPSYCH-GEMS Schizophrenia Working Group,
Demontis, D.
Borglum, A.
Walters, J.
O'Donovan, M.
Sullivan, P. F.
Owen, M.
Devlin, B.
Sieberts, S. K.
Cox, N.
Im, H. K.
Sklar, P.
Stahl, E. A.
2017-11-21
doi:10.1101/222596
Cold Spring Harbor Laboratory Press
2017-11-21
-
<![CDATA[
AP-4 mediated ATG9A sorting underlies axonal and autophagosome biogenesis defects in a mouse model of AP-4 deficiency syndrome
]]>
https://biorxiv.org/cgi/content/short/235101v1?rss=1"
Ivankovic, D.
Lopez-Domenech, G.
Drew, J.
Tooze, S. A.
Kittler, J. T.
2017-12-16
doi:10.1101/235101
Cold Spring Harbor Laboratory Press
2017-12-16
-
<![CDATA[
Cyfip1 haploinsufficiency increases compulsive-like behavior and paternally inherited palatable food intake: Implications for Prader-Willi Syndrome
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https://biorxiv.org/cgi/content/short/264846v1?rss=1"
Babbs, R. K.
Ruan, Q. T.
Kelliher, J. C.
Feng, A. X.
Kirkpatrick, S. L.
Benitez, F. A.
Rodriguez, F. A.
Pierre, J.
Kumar, V.
Mulligan, M. K.
Bryant, C. D.
2018-02-14
doi:10.1101/264846
Cold Spring Harbor Laboratory Press
2018-02-14
-
<![CDATA[
Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation
]]>
https://biorxiv.org/cgi/content/short/265017v1?rss=1"
Huckins, L. M.
Dobbyn, A.
McFadden, W.
Ruderfer, D.
Wang, W.
Gamazon, E. R.
Leppa, V.
Eating Disorders working group of the Psychiatric Genomics Consortium (PGC-ED),
Devlin, B.
Sieberts, S. K.
Cox, N.
Im, H. K.
Breen, G.
Sklar, P.
Bulik, C.
Stahl, E. A.
2018-02-14
doi:10.1101/265017
Cold Spring Harbor Laboratory Press
2018-02-14
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<![CDATA[
An Atlas of Human and Murine Genetic Influences on Osteoporosis
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https://biorxiv.org/cgi/content/short/338863v1?rss=1"
Morris, J. A.
Kemp, J. P.
Youlten, S. E.
Laurent, L.
Logan, J. G.
Chai, R.
Vulpescu, N. A.
Forgetta, V.
Kleinman, A.
Mohanty, S.
Sergio, C. M.
Quinn, J.
Nguyen-Yamamoto, L.
Luco, A.-L.
Vijay, J.
Simon, M.-M.
Pramatarova, A.
Medina-Gomez, C.
Trajanoska, K.
Ghirardello, E. J.
Butterfield, N. C.
Curry, K. F.
Leitch, V. D.
Sparkes, P. C.
Adoum, A.-T.
Mannan, N. S.
Komla-Ebri, D.
Pollard, A. S.
Dewhurst, H. F.
Hassell, T.
Beltejar, M.-J. G.
Adams, D. J.
Vaillancourt, S. M.
Kaptoge, S.
Baldock, P.
Cooper, C.
Reeve, J.
Ntzani, E.
Evangelou, E.
Ohlsson, C.
Karas
2018-06-11
doi:10.1101/338863
Cold Spring Harbor Laboratory Press
2018-06-11
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<![CDATA[
Spatiotemporal Gene Coexpression and Regulation in Mouse Cardiomyocytes of Early Cardiac Morphogenesis
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https://biorxiv.org/cgi/content/short/349993v1?rss=1"
Liu, Y.
Lu, P.
Wang, Y.
Morrow, B. E.
Zhou, B.
Zheng, D.
2018-06-19
doi:10.1101/349993
Cold Spring Harbor Laboratory Press
2018-06-19
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<![CDATA[
OTUB1 non-catalytically regulates the stability of the E2 ubiquitin conjugating enzyme UBE2E1
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https://biorxiv.org/cgi/content/short/359414v1?rss=1"
Pasupala, N.
Morrow, M. E.
Que, L. T.
Malynn, B. A.
Ma, A.
Wolberger, C.
2018-06-29
doi:10.1101/359414
Cold Spring Harbor Laboratory Press
2018-06-29
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<![CDATA[
NCLX prevents cell death during adrenergic activation of the brown adipose tissue
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https://biorxiv.org/cgi/content/short/464339v1?rss=1"
Assali, E. A.
Jones, A. E.
Veliova, M.
Taha, M.
Miller, N.
Shum, M.
Oliveira, M. F.
Las, G.
Liesa, M.
Sekler, I.
Shirihai, O. S.
2018-11-06
doi:10.1101/464339
Cold Spring Harbor Laboratory Press
2018-11-06
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<![CDATA[
Genetic dissection of femoral and tibial microarchitecture
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https://biorxiv.org/cgi/content/short/512103v1?rss=1"
Lu, L.
Huang, J.
Xu, F.
Xiao, Z.
Wang, J.
Zhang, B.
David, N. V.
Arends, D.
Gu, W.
Ackert-Bicknell, C.
Sabik, O. L.
Farber, C. R.
Quarles, L. D.
Williams, R. W.
2019-01-04
doi:10.1101/512103
Cold Spring Harbor Laboratory Press
2019-01-04
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<![CDATA[
Trichoplein controls endothelial cell function by regulating autophagy
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https://biorxiv.org/cgi/content/short/595702v1?rss=1"
Martello, A.
Lauriola, A.
Mellis, D.
Parish, E.
Dawson, J. C.
Imrie, L.
Vidmar, M.
Gammoh, N.
Mitic, T.
Brittan, M.
Mills, N.
Carragher, N.
D'Arca, D.
Caporali, A.
2019-04-04
doi:10.1101/595702
Cold Spring Harbor Laboratory Press
2019-04-04
-
<![CDATA[
Embryonic and foetal expression patterns of the ciliopathy gene CEP164
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https://biorxiv.org/cgi/content/short/741538v1?rss=1"
Devlin, L. A.
Ramsbottom, S. A.
Overman, L. M.
Lisgo, S.
Clowry, G.
Molinari, E.
Miles, C. G.
Sayer, J. A.
2019-08-20
doi:10.1101/741538
Cold Spring Harbor Laboratory Press
2019-08-20
-
<![CDATA[
IRG1 controls immunometabolic host response and restricts intracellular Mycobacterium tuberculosis infection
]]>
https://biorxiv.org/cgi/content/short/761551v1?rss=1"
Hoffmann, E.
Machelart, A.
Belhaouane, I.
Deboosere, N.
Pauwels, A.-M.
Saint-Andre, J.-P.
Song, O.-R.
Jouny, S.
Poncet, A.
Marion, S.
Beyaert, R.
Majlessi, L.
Brodin, P.
2019-09-08
doi:10.1101/761551
Cold Spring Harbor Laboratory Press
2019-09-08
-
<![CDATA[
Dual Histone Methyl Reader ZCWPW1 Facilitates Repair of Meiotic Double Strand Breaks
]]>
https://biorxiv.org/cgi/content/short/821603v1?rss=1"
Mahgoub, M.
Paiano, J.
Bruno, M.
Wu, W.
Pathuri, S.
Zhang, X.
Ralls, S.
Cheng, X.
Nussenzweig, A.
Macfarlan, T.
2019-10-29
doi:10.1101/821603
Cold Spring Harbor Laboratory Press
2019-10-29
-
<![CDATA[
ZCWPW1 is recruited to recombination hotspots by PRDM9, and is essential for meiotic double strand break repair
]]>
https://biorxiv.org/cgi/content/short/821678v1?rss=1"
nView larger version (31K):norg.highwire.dtl.DTLVardef@141deb9org.highwire.dtl.DTLVardef@18559deorg.highwire.dtl.DTLVardef@1cf380borg.highwire.dtl.DTLVardef@1689072_HPS_FORMAT_FIGEXP M_FIG C_FIG
]]>
Wells, D.
Bitoun, E.
Moralli, D.
Zhang, G.
Hinch, A. G.
Donnelly, P.
Green, C.
Myers, S. R.
2019-10-30
doi:10.1101/821678
Cold Spring Harbor Laboratory Press
2019-10-30
-
<![CDATA[
Induction of pancreatic tumor-selective ferroptosis through modulation of cystine import
]]>
https://biorxiv.org/cgi/content/short/827972v1?rss=1"
Badgley, M. A.
Kremer, D.
Maurer, H. C.
DelGiorno, K. E.
Lee, H.-J.
Purohit, V.
Sagalovskiy, I.
Ma, A.
Kapillian, J.
Firl, C. E. M.
Decker, A. R.
Sastra, S. A.
Palermo, C. F.
Andrade, L. R.
Sajjakulnukit, P.
Zhang, L.
Tolstyka, Z. P.
Hirschhorn, T.
Lamb, C.
Liu, T.
Gu, W.
Seeley, E. S.
Stone, E.
Georgiou, G.
Manor, U.
Iuga, A.
Wahl, G. M.
Stockwell, B. R.
Lyssiotis, C. A.
Olive, K. P.
2019-11-01
doi:10.1101/827972
Cold Spring Harbor Laboratory Press
2019-11-01
-
<![CDATA[
Decoding the genomic basis of osteoarthritis
]]>
https://biorxiv.org/cgi/content/short/835850v1?rss=1"
Steinberg, J.
Southam, L.
Butterfield, N. C.
Roumeliotis, T. I.
Fontalis, A.
Clark, M. J.
Jayasuriya, R. L.
Swift, D.
Shah, K. M.
Curry, K. F.
Brooks, R. A.
McCaskie, A. W.
Lelliott, C. J.
Choudhary, J. S.
Bassett, J. D.
Williams, G. R.
Wilkinson, J. M.
Zeggini, E.
2019-11-12
doi:10.1101/835850
Cold Spring Harbor Laboratory Press
2019-11-12
-
<![CDATA[
The production of 4,182 mouse lines identifies experimental and biological variables impacting Cas9-mediated mutant mouse line production
]]>
https://biorxiv.org/cgi/content/short/2021.10.06.463037v1?rss=1"
Elrick, H.
Peterson, K. A.
Wood, J. A.
Lanza, D. G.
Acar, E. F.
Teboul, L.
Ryder, E. J.
Ayabe, S.
Birling, M.-C.
Caulder, A.
Chiani, F.
Codner, G. F.
Doe, B.
Duddy, G.
Gambadoro, A.
Gertsenstein, M.
Gomez-Segura, A.
Goodwin, L. O.
Ju, C.
Kasparek, P.
King, R. E.
Lee, D.
Lee, H.
Lintott, L. G.
Liu, Z.
Lorenzo, I.
Mackenzie, M.
Marschall, S.
Matthews, P.
Ruhe, M.
Santos, L.
Seavitt, J. R.
Seisenberger, C.
Wardle-Jones, H.
Willis, B. J.
Zhang, J.
Zhao, J.
Zhou, F.
Adams, D. J.
Bradley, A.
Braun, R. E.
DeMayo, F. J.
Dickinson, M. E.
Gao, X.
Herault, Y.
2021-10-06
doi:10.1101/2021.10.06.463037
Cold Spring Harbor Laboratory Press
2021-10-06
-
<![CDATA[
Whole genome analysis for 163 guide RNAs in Cas9 edited mice reveals minimal off-target activity
]]>
https://biorxiv.org/cgi/content/short/2021.08.11.455876v1?rss=1"
Peterson, K. A.
Khalouei, S.
Woodd, J. A.
Lanza, D. G.
Lintott, L. G.
Willis, B. J.
Seavitt, J. R.
Hanafi, N.
Braun, R. E.
Dickinson, M. E.
White, J. K.
Lloyd, K. C. K.
Heaney, J.
Murray, S. A.
Ramani, A.
Nutter, L. M.
2021-08-11
doi:10.1101/2021.08.11.455876
Cold Spring Harbor Laboratory Press
2021-08-11
-
<![CDATA[
Widespread cryptic variation in genetic architecture between the sexes
]]>
https://biorxiv.org/cgi/content/short/2021.02.20.432102v1?rss=1"
van der Bijl, W.
Mank, J. E.
2021-02-20
doi:10.1101/2021.02.20.432102
Cold Spring Harbor Laboratory Press
2021-02-20
-
<![CDATA[
MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses
]]>
https://biorxiv.org/cgi/content/short/2021.11.11.468142v1?rss=1"
Devine, J.
Vidal-Garcia, M.
Liu, W.
Neves, A.
Lo Vercio, L. D.
Green, R. M.
Richbourg, H. A.
Marchini, M.
Unger, C. M.
Nickle, A. C.
Radford, B.
Young, N. M.
Gonzalez, P. N.
Schuler, R. E.
Bugacov, A.
Rolian, C.
Percival, C. J.
Williams, T.
Niswander, L.
Calof, A. L.
Lander, A. D.
Visel, A.
Jirik, F. R.
Cheverud, J. M.
Klein, O. D.
Birnbaum, R. Y.
Merrill, A. E.
Ackermann, R. R.
Graf, D.
Hemberger, M.
Dean, W.
Forkert, N. D.
Murray, S. A.
Westerberg, H.
Marcucio, R. S.
Hallgrimsson, B.
2021-11-12
doi:10.1101/2021.11.11.468142
Cold Spring Harbor Laboratory Press
2021-11-12
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<![CDATA[
Transcriptome-wide Association Study and eQTL colocalization identify potentially causal genes responsible for bone mineral density GWAS associations
]]>
https://biorxiv.org/cgi/content/short/2021.10.12.464046v1?rss=1"
Al-Barghouthi, B. M.
Rosenow, W. T.
Du, K.-P.
Heo, J.
Maynard, R.
Mesner, L.
Calabrese, G.
Nakasone, A.
Senwar, B.
Gerstenfeld, L.
Ferguson, V.
Ackert-Bicknell, C.
Morgan, E.
Brautigan, D. L.
Farber, C. R.
2021-10-13
doi:10.1101/2021.10.12.464046
Cold Spring Harbor Laboratory Press
2021-10-13
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<![CDATA[
Application of long-read sequencing for robust identification of correct alleles in genome edited animals
]]>
https://biorxiv.org/cgi/content/short/838193v1?rss=1"
McCabe, C. V.
Codner, G. F.
Allan, A. J.
Caulder, A.
Christou, S.
Loeffler, J.
Mackenzie, M.
Malzer, E.
Mianne, J.
Pike, F. J.
Hutchison, M.
Stewart, M. E.
Gates, H.
Wells, S.
Sanderson, N. D.
Teboul, L.
2019-11-14
doi:10.1101/838193
Cold Spring Harbor Laboratory Press
2019-11-14
-
<![CDATA[
Prevalent mouse phenotypes in the unexplored druggable genome
]]>
https://biorxiv.org/cgi/content/short/2021.11.08.467777v1?rss=1"
Gulyaeva, O.
Hu, Z.
Oprea, T. I.
Lloyd, K.
Gomez, S. M.
Roth, B. L.
McManus, M.
2021-11-08
doi:10.1101/2021.11.08.467777
Cold Spring Harbor Laboratory Press
2021-11-08