Search Results - Andrew E. Timms

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  1. 1
    Mutations in<i>Dnaaf1</i>and<i>Lrrc48</i>Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice

    Mutations in<i>Dnaaf1</i>and<i>Lrrc48</i>Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice by Seungshin Ha, Anna Lindsay, Andrew E. Timms, David R. Beier

    Published 2016
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  2. 2
    Differential requirements of tubulin genes in mammalian forebrain development

    Differential requirements of tubulin genes in mammalian forebrain development by Elizabeth Bittermann, Zakia Abdelhamed, Ryan P. Liegel, Chelsea Menke, Andrew E. Timms, David R. Beier, Rolf W. Stottmann

    Published 2019
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  3. 3
    A mutation in <i>Ccdc39</i> causes neonatal hydrocephalus with abnormal motile cilia development in mice

    A mutation in <i>Ccdc39</i> causes neonatal hydrocephalus with abnormal motile cilia development in mice by Zakia Abdelhamed, Shawn M. Vuong, Lauren M. Hill, Crystal Shula, Andrew E. Timms, David R. Beier, Kenneth Campbell, Francesco T. Mangano, Rolf W. Stottmann, June Goto

    Published 2018
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  4. 4
    A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair

    A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair by Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, Laura Baker, Jessica Tusi, Nina Powell‐Hamilton, Deborah L. Stabley, Katia Sol‐Church, Andrew E. Timms, William B. Dobyns

    Published 2016
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  5. 5
    Mapping the <i>cis</i> -regulatory architecture of the human retina reveals noncoding genetic variation in disease

    Mapping the <i>cis</i> -regulatory architecture of the human retina reveals noncoding genetic variation in disease by Timothy J. Cherry, Marty G. Yang, David A. Harmin, Peter Tao, Andrew E. Timms, Miriam Bauwens, Rando Allikmets, Evan Jones, Rui Chen, Elfride De Baere, Michael E. Greenberg

    Published 2020
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  6. 6
    Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations

    Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations by Kaitlyn Zenner, Chi Vicky Cheng, Dana M. Jensen, Andrew E. Timms, Giridhar M. Shivaram, Randall A. Bly, Sheila Ganti, Kathryn B. Whitlock, William B. Dobyns, Jonathan A. Perkins, James T. Bennett

    Published 2019
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  7. 7
    Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci

    Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci by Steven H. Laval, Andrew E. Timms, Steve Edwards, L Bradbury, Sinèad Brophy, Anita Milicic, Laurence A. Rubin, Katherine A. Siminovitch, Daniel E. Weeks, Andrei Călin, B P Wordsworth, Matthew A. Brown

    Published 2001
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  8. 8
    Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids

    Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids by Eric D. Thomas, Andrew E. Timms, Sarah Giles, Sarah Harkins‐Perry, Pin Lyu, Thanh Hoang, Jiang Qian, Victoria E. Jackson, Melanie Bahlo, Seth Blackshaw, Martin Friedlander, Kevin Eade, Timothy J. Cherry

    Published 2022
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  9. 9
    Adaptations in Hippo-Yap signaling and myofibroblast fate underlie scar-free ear appendage wound healing in spiny mice

    Adaptations in Hippo-Yap signaling and myofibroblast fate underlie scar-free ear appendage wound healing in spiny mice by Chris M. Brewer, Branden R. Nelson, Paul Wakenight, Sarah Collins, Daryl M. Okamura, Xiu Rong Dong, William M. Mahoney, Aaron McKenna, Jay Shendure, Andrew E. Timms, Kathleen J. Millen, Mark W. Majesky

    Published 2021
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  10. 10
    Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH

    Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH by Charlene J. Williams, Yun Zhang, Andrew E. Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, E. Yvonne Jones, Raul Marchegiani, Antonio J. Reginato, R.G.G. Russell, B P Wordsworth, Andrew Carr, Matthew A. Brown

    Published 2002
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  11. 11
    The Interleukin 1 Gene Cluster Contains a Major Susceptibility Locus for Ankylosing Spondylitis

    The Interleukin 1 Gene Cluster Contains a Major Susceptibility Locus for Ankylosing Spondylitis by Andrew E. Timms, Alison M. Crane, Anne-Marie Sims, Heather J. Cordell, Linda A. Bradbury, Aaron Abbott, Mark Coyne, O Beynon, I. Herzberg, Gordon W. Duff, Andrei Călin, Lon R. Cardon, B P Wordsworth, Matthew A. Brown

    Published 2004
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  12. 12
    Gene regulatory networks controlling temporal patterning, neurogenesis, and cell-fate specification in mammalian retina

    Gene regulatory networks controlling temporal patterning, neurogenesis, and cell-fate specification in mammalian retina by Pin Lyu, Thanh Hoang, Clayton P. Santiago, Eric D. Thomas, Andrew E. Timms, Haley Appel, Megan Y. Gimmen, Nguyet Le, Lizhi Jiang, Dong Won Kim, Siqi Chen, David F. Espinoza, Ariel E. Telger, Kurt Weir, Brian S. Clark, Timothy J. Cherry, Jiang Qian, Seth Blackshaw

    Published 2021
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  13. 13
    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly by Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace T. Myers, Jean‐Baptiste Rivière, Maha S. Zaki, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

    Published 2018
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  14. 14
    Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

    Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum by Parthiv Haldipur, Kimberly A. Aldinger, Silvia Bernardo, Mei Deng, Andrew E. Timms, Lynne M. Overman, Conrad Winter, Steven Lisgo, Razavi, Evelina Silvestri, Lucia Manganaro, Homa Adle‐Biassette, Fabien Guimiot, Rosa Russo, Debora Kidron, Patrick R. Hof, Dianne Gerrelli, Susan Lindsay, William B. Dobyns, Ian Glass, Paula Alexandre, Kathleen J. Millen

    Published 2019
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  15. 15
    Spatial and cell type transcriptional landscape of human cerebellar development

    Spatial and cell type transcriptional landscape of human cerebellar development by Kimberly A. Aldinger, Zachary Thomson, Ian G. Phelps, Parthiv Haldipur, Mei Deng, Andrew E. Timms, Matthew Hirano, Gabriel Santpere, Charles M. Roco, Alexander Rosenberg, Belén Lorente-Galdós, Forrest O. Gulden, Diana R. O’Day, Lynne M. Overman, Steven Lisgo, Paula Alexandre, Nenad Šestan, Dan Doherty, William B. Dobyns, Georg Seelig, Ian Glass, Kathleen J. Millen

    Published 2021
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  16. 16
    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care by Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E. Timms, Josef Šulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini, Emily S Doherty, Sulagna C. Saitta, Christina M. Lockwood, Colin C. Pritchard, William B. Dobyns, Edward J. Novotny, Jason N. Wright, Russell P. Saneto, Seth D. Friedman, Jason S. Hauptman, Jeffrey G. Ojemann, Raj P. Kapur, Ghayda Mirzaa

    Published 2021
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  17. 17
    Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

    Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia by Christopher N Hahn, Chan‐Eng Chong, Catherine Carmichael, Ella Wilkins, Peter J Brautigan, Xiaochun Li, Milena Babic, Ming Lin, Amandine Carmagnac, Young Kyung Lee, Chung Hoow Kok, Lucia Gagliardi, Kathryn Friend, Paul G. Ekert, Carolyn M Butcher, Anna Brown, Ian D. Lewis, L.B. To, Andrew E. Timms, Jan Storek, Sarah Moore, Meryl Altree, Robert Escher, Peter Bardy, Graeme Suthers, Richard J. D’Andrea, Marshall S. Horwitz, Hamish S. Scott

    Published 2011
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  18. 18
    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study by Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi‐Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean‐François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison L. Goetsch, Beth Martin, Evan A. Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini

    Published 2015
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  19. 19
    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis by James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine Christensen, Stephen R. Braddock, Heather A. Brandling‐Bennett, Raoul C. M. Hennekam, Brian Hon‐Yin Chung, Anna Lehman, John Su, SuYuen Ng, David J. Amor, Jacek Majewski, Les Biesecker, Kym M. Boycott, William B. Dobyns, Mark O’Driscoll, Ute Moog, Laura M. McDonell

    Published 2016
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  20. 20
    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly by Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa

    Published 2017
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