Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Stephen P. Murray"'
Autor:
Hillary Elrick, Kevin A. Peterson, Brandon J. Willis, Denise G. Lanza, Elif F. Acar, Edward J. Ryder, Lydia Teboul, Petr Kasparek, Marie-Christine Birling, David J. Adams, Allan Bradley, Robert E. Braun, Steve D. Brown, Adam Caulder, Gemma F. Codner, Francesco J. DeMayo, Mary E. Dickinson, Brendan Doe, Graham Duddy, Marina Gertsenstein, Leslie O. Goodwin, Yann Hérault, Lauri G. Lintott, K. C. Kent Lloyd, Isabel Lorenzo, Matthew Mackenzie, Ann-Marie Mallon, Colin McKerlie, Helen Parkinson, Ramiro Ramirez-Solis, John R. Seavitt, Radislav Sedlacek, William C. Skarnes, Damien Smedley, Sara Wells, Jacqueline K. White, Joshua A. Wood, International Mouse Phenotyping Consortium, Stephen A. Murray, Jason D. Heaney, Lauryl M. J. Nutter
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract The International Mouse Phenotyping Consortium (IMPC) systematically produces and phenotypes mouse lines with presumptive null mutations to provide insight into gene function. The IMPC now uses the programmable RNA-guided nuclease Cas9 for i
Externí odkaz:
https://doaj.org/article/0788cc9d0e59472c90243baecc221f96
Autor:
Lydia Teboul, James Amos-Landgraf, Fernando J. Benavides, Marie-Christine Birling, Steve D. M. Brown, Elizabeth Bryda, Rosie Bunton-Stasyshyn, Hsian-Jean Chin, Martina Crispo, Fabien Delerue, Michael Dobbie, Craig L. Franklin, Ernst-Martin Fuchtbauer, Xiang Gao, Christelle Golzio, Rebecca Haffner, Yann Hérault, Martin Hrabe de Angelis, Kevin C. Kent Lloyd, Terry R. Magnuson, Lluis Montoliu, Stephen A. Murray, Ki-Hoan Nam, Lauryl M. J. Nutter, Eric Pailhoux, Fernando Pardo Manuel de Villena, Kevin Peterson, Laura Reinholdt, Radislav Sedlacek, Je Kyung Seong, Toshihiko Shiroishi, Cynthia Smith, Toru Takeo, Louise Tinsley, Jean-Luc Vilotte, Søren Warming, Sara Wells, C. Bruce Whitelaw, Atsushi Yoshiki, Asian Mouse Mutagenesis Resource Association, CELPHEDIA infrastructure, INFRAFRONTIER consortium, International Mammalian Genome Society, International Mouse Phenotyping Consortium, International Society for Transgenic Technologies, Mutant Mouse Resource and Research Centers, Phenomics Australia, RRRC- Rat Resource and Research Center, Guillaume Pavlovic
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-8 (2024)
Abstract The biomedical research community addresses reproducibility challenges in animal studies through standardized nomenclature, improved experimental design, transparent reporting, data sharing, and centralized repositories. The ARRIVE guideline
Externí odkaz:
https://doaj.org/article/81e4d92fe0424d7c9017a0c563ae6724
Autor:
Kevin A. Peterson, Sam Khalouei, Nour Hanafi, Joshua A. Wood, Denise G. Lanza, Lauri G. Lintott, Brandon J. Willis, John R. Seavitt, Robert E. Braun, Mary E. Dickinson, Jacqueline K. White, K. C. Kent Lloyd, Jason D. Heaney, Stephen A. Murray, Arun Ramani, Lauryl M. J. Nutter
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-10 (2023)
Abstract Genome editing with CRISPR-associated (Cas) proteins holds exceptional promise for “correcting” variants causing genetic disease. To realize this promise, off-target genomic changes cannot occur during the editing process. Here, we use w
Externí odkaz:
https://doaj.org/article/f7798291f4934fd091966e0b3ee6f881
Autor:
Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz-Fuentes, Chih-Wei Hsu, Ignatia B. Van den Veyver, Ann M. Flenniken, Colin McKerlie, Stephen A. Murray, Lydia Teboul, Jason D. Heaney, K. C. Kent Lloyd, Louise Lanoue, Robert E. Braun, Jacqueline K. White, Amie K. Creighton, Valerie Laurin, Ruolin Guo, Dawei Qu, Sara Wells, James Cleak, Rosie Bunton-Stasyshyn, Michelle Stewart, Jackie Harrisson, Jeremy Mason, Hamed Haseli Mashhadi, Helen Parkinson, Ann-Marie Mallon, International Mouse Phenotyping Consortium, Genomics England Research Consortium, Damian Smedley
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
Abstract Background The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is p
Externí odkaz:
https://doaj.org/article/412d46fbccfd45569d9db0ede072d45d
Autor:
Jay Devine, Marta Vidal-García, Wei Liu, Amanda Neves, Lucas D. Lo Vercio, Rebecca M. Green, Heather A. Richbourg, Marta Marchini, Colton M. Unger, Audrey C. Nickle, Bethany Radford, Nathan M. Young, Paula N. Gonzalez, Robert E. Schuler, Alejandro Bugacov, Campbell Rolian, Christopher J. Percival, Trevor Williams, Lee Niswander, Anne L. Calof, Arthur D. Lander, Axel Visel, Frank R. Jirik, James M. Cheverud, Ophir D. Klein, Ramon Y. Birnbaum, Amy E. Merrill, Rebecca R. Ackermann, Daniel Graf, Myriam Hemberger, Wendy Dean, Nils D. Forkert, Stephen A. Murray, Henrik Westerberg, Ralph S. Marcucio, Benedikt Hallgrímsson
Publikováno v:
Scientific Data, Vol 9, Iss 1, Pp 1-18 (2022)
Abstract Complex morphological traits are the product of many genes with transient or lasting developmental effects that interact in anatomical context. Mouse models are a key resource for disentangling such effects, because they offer myriad tools f
Externí odkaz:
https://doaj.org/article/7defe75069d24f29bca1c5a94da00059
Autor:
Jay Devine, Marta Vidal-García, Wei Liu, Amanda Neves, Lucas D. Lo Vercio, Rebecca M. Green, Heather A. Richbourg, Marta Marchini, Colton M. Unger, Audrey C. Nickle, Bethany Radford, Nathan M. Young, Paula N. Gonzalez, Robert E. Schuler, Alejandro Bugacov, Campbell Rolian, Christopher J. Percival, Trevor Williams, Lee Niswander, Anne L. Calof, Arthur D. Lander, Axel Visel, Frank R. Jirik, James M. Cheverud, Ophir D. Klein, Ramon Y. Birnbaum, Amy E. Merrill, Rebecca R. Ackermann, Daniel Graf, Myriam Hemberger, Wendy Dean, Nils D. Forkert, Stephen A. Murray, Henrik Westerberg, Ralph S. Marcucio, Benedikt Hallgrímsson
Publikováno v:
Scientific Data, Vol 10, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/be08db417e494e3e9e3dd747d51524cb
Autor:
Stanley M. Kanai, Caleb Heffner, Timothy C. Cox, Michael L. Cunningham, Francisco A. Perez, Aaron M. Bauer, Philip Reigan, Cristan Carter, Stephen A. Murray, David E. Clouthier
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 4 (2022)
Auriculocondylar syndrome 2 (ARCND2) is a rare autosomal dominant craniofacial malformation syndrome linked to multiple genetic variants in the coding sequence of phospholipase C β4 (PLCB4). PLCB4 is a direct signaling effector of the endothelin rec
Externí odkaz:
https://doaj.org/article/1018cf0b961340698266dbc93ce8cfff
Autor:
K. C. Kent Lloyd, David J. Adams, Gareth Baynam, Arthur L. Beaudet, Fatima Bosch, Kym M. Boycott, Robert E. Braun, Mark Caulfield, Ronald Cohn, Mary E. Dickinson, Michael S. Dobbie, Ann M. Flenniken, Paul Flicek, Sanjeev Galande, Xiang Gao, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabě de Angelis, James R. Lupski, Stanislas Lyonnet, Ann-Marie Mallon, Fabio Mammano, Calum A. MacRae, Roderick McInnes, Colin McKerlie, Terrence F. Meehan, Stephen A. Murray, Lauryl M. J. Nutter, Yuichi Obata, Helen Parkinson, Michael S. Pepper, Radislav Sedlacek, Je Kyung Seong, Toshihiko Shiroishi, Damian Smedley, Glauco Tocchini-Valentini, David Valle, Chi-Kuang Leo Wang, Sara Wells, Jacqueline White, Wolfgang Wurst, Ying Xu, Steve D. M. Brown
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-6 (2020)
Externí odkaz:
https://doaj.org/article/c65542f19b604102aa0a0346d13081d3
Autor:
Pilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bucan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann M. Flenniken, Hugh Morgan, Henrik Westerberg, Tomasz Konopka, Chih-Wei Hsu, Audrey Christiansen, Denise G. Lanza, Arthur L. Beaudet, Jason D. Heaney, Helmut Fuchs, Valerie Gailus-Durner, Tania Sorg, Jan Prochazka, Vendula Novosadova, Christopher J. Lelliott, Hannah Wardle-Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedlacek, David J. Adams, John R. Seavitt, Glauco Tocchini-Valentini, Fabio Mammano, Robert E. Braun, Colin McKerlie, Yann Herault, Martin Hrabě de Angelis, Ann-Marie Mallon, K. C. Kent Lloyd, Steve D. M. Brown, Helen Parkinson, Terrence F. Meehan, Damian Smedley, The Genomics England Research Consortium, The International Mouse Phenotyping Consortium
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Discovery of causal variants for monogenic disorders has been facilitated by whole exome and genome sequencing, but does not provide a diagnosis for all patients. Here, the authors propose a Full Spectrum of Intolerance to Loss-of-Function (FUSIL) ca
Externí odkaz:
https://doaj.org/article/38973450f49d45729ee9836b3968bc61
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2022)
As sequencing technology improves, the identification of new disease-associated genes and new alleles of known genes is rapidly increasing our understanding of the genetic underpinnings of rare diseases, including neuromuscular diseases. However, pre
Externí odkaz:
https://doaj.org/article/f759657762f94d19a907582a6c33192e