检索结果 - Benjamin W. Darbro

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  1. 1
    Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center

    Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center 由 Matthew D. Krasowski, Deborah Chudzik, Anna Dolezal, Bryan Steussy, Michael P. Gailey, Benjamin Koch, Sara B Kilborn, Benjamin W. Darbro, Carolyn D Rysgaard, Julia Klesney‐Tait

    出版 2015
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  2. 2
    Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

    Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO) 由 Allison Cox, Benjamin W. Darbro, Ronald M. Laxer, Gabriel Velez, Xinyu Bing, Alexis L. Finer, Albert Erives, Vinit B. Mahajan, Alexander G. Bassuk, Polly J. Ferguson

    出版 2017
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  3. 3
    Heritability of glutathione and related metabolites in stored red blood cells

    Heritability of glutathione and related metabolites in stored red blood cells 由 Thomas J. van ‘t Erve, Claire M. Doskey, Brett A. Wagner, John R. Hess, Benjamin W. Darbro, Kelli K. Ryckman, Jeffrey C. Murray, Thomas J. Raife, Garry R. Buettner

    出版 2014
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  4. 4
    <i>TBK1</i>Gene Duplication and Normal-Tension Glaucoma

    <i>TBK1</i>Gene Duplication and Normal-Tension Glaucoma 由 Robert Ritch, Benjamin W. Darbro, Geeta Menon, Cheryl L. Khanna, Frances Solivan-Timpe, Ben R. Roos, Mansoor Sarfarzi, Kazuhide Kawase, Tetsuya Yamamoto, Alan L. Robin, Andrew Lotery, John H. Fingert

    出版 2014
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  5. 5
    Eating disorder predisposition is associated with ESRRA and HDAC4 mutations

    Eating disorder predisposition is associated with ESRRA and HDAC4 mutations 由 Huxing Cui, Jarrette Moore, Sunbola S. Ashimi, Brittany L. Mason, Jordan N. Drawbridge, Shizhong Han, Benjamin Hing, Abigail Matthews, Carrie J. McAdams, Benjamin W. Darbro, Andrew A. Pieper, David Waller, Chao Xing, Michael Lutter

    出版 2013
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  6. 6
    The heritability of metabolite concentrations in stored human red blood cells

    The heritability of metabolite concentrations in stored human red blood cells 由 Thomas J. van ‘t Erve, Brett A. Wagner, Sean M. Martin, C. Michael Knudson, Robyn Blendowski, Mignon Keaton, Tracy Holt, John R. Hess, Garry R. Buettner, Kelli K. Ryckman, Benjamin W. Darbro, Jeffrey C. Murray, Thomas J. Raife

    出版 2014
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  7. 7
    The heritability of hemolysis in stored human red blood cells

    The heritability of hemolysis in stored human red blood cells 由 Thomas J. van ‘t Erve, Brett A. Wagner, Sean M. Martin, C. Michael Knudson, Robyn Blendowski, Mignon Keaton, Tracy Holt, John R. Hess, Garry R. Buettner, Kelli K. Ryckman, Benjamin W. Darbro, Jeffrey C. Murray, Thomas J. Raife

    出版 2015
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  8. 8
    Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum

    Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum 由 Aline Petrin, Ligiane Alves Machado‐Paula, Ashley Hinkle, L Hovey, Waheed Awotoye, Michael S. Chimenti, Benjamin W. Darbro, Lucilene Arilho Ribeiro, Shareef M. Dabdoub, Tabitha Peter, Patrick Breheny, Jeffrey C. Murray, Eric Van Otterloo, Shankar Rengasamy Venugopalan, Lina M. Moreno Uribe

    出版 2024
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  9. 9
    Development and translational imaging of a TP53 porcine tumorigenesis model

    Development and translational imaging of a TP53 porcine tumorigenesis model 由 Jessica C. Sieren, David K. Meyerholz, Xiaojun Wang, Bryan T. Davis, John D. Newell, Emily Hammond, Judy A. Rohret, Frank Rohret, Jason T. Struzynski, J. Adam Goeken, Paul Naumann, Mariah Leidinger, Agshin F. Taghiyev, Richard Van Rheeden, Jussara Hagen, Benjamin W. Darbro, Dawn E. Quelle, Christopher S. Rogers

    出版 2014
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  10. 10
    A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans

    A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans 由 Patrick D. Brophy, Maria Rasmussen, Mrutyunjaya Parida, Greg Bonde, Benjamin W. Darbro, Xiaojing Hong, Jason Clarke, Kevin A. Peterson, James M. Denegre, Michael Schneider, Caroline R. Sussman, Lone Sunde, Dorte L. Lildballe, Jens Michael Hertz, Robert A. Cornell, Stephen A. Murray, J. Robert Manak

    出版 2017
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  11. 11
    Gene Expression Signatures Identify Novel Therapeutics for Metastatic Pancreatic Neuroendocrine Tumors

    Gene Expression Signatures Identify Novel Therapeutics for Metastatic Pancreatic Neuroendocrine Tumors 由 Aaron T. Scott, Michelle Weitz, Patrick Breheny, Po Hien Ear, Benjamin W. Darbro, Bart J. Brown, Terry A. Braun, Guiying Li, Shaikamjad Umesalma, Courtney A. Kaemmer, Chandra K. Maharjan, Dawn E. Quelle, Andrew M. Bellizzi, Chandrikha Chandrasekharan, Joseph S. Dillon, Thomas M. O’Dorisio, James R. Howe

    出版 2020
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  12. 12
    RABL6A Is an Essential Driver of MPNSTs that Negatively Regulates the RB1 Pathway and Sensitizes Tumor Cells to CDK4/6 Inhibitors

    RABL6A Is an Essential Driver of MPNSTs that Negatively Regulates the RB1 Pathway and Sensitizes Tumor Cells to CDK4/6 Inhibitors 由 Jordan L. Kohlmeyer, Courtney A. Kaemmer, Casey Pulliam, Chandra K. Maharjan, Allison Moreno Samayoa, Heather J. Major, Kendall E. Cornick, Vickie Knepper-Adrian, Rajesh Khanna, Jessica C. Sieren, Mariah Leidinger, David K. Meyerholz, K. D. Zamba, Jill M. Weimer, Rebecca D. Dodd, Benjamin W. Darbro, Munir R. Tanas, Dawn E. Quelle

    出版 2020
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  13. 13
    Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

    Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy 由 Michael S. Hildebrand, Nicole G. Griffin, John A. Damiano, Elisa J. Cops, Rosemary Burgess, Ezgi Öztürk, Nigel C. Jones, Richard J. Leventer, Jeremy L. Freeman, A. Simon Harvey, Lynette G. Sadleir, Ingrid E. Scheffer, Heather J. Major, Benjamin W. Darbro, Andrew S. Allen, David B. Goldstein, John Kerrigan, Samuel F. Berkovic, Erin L. Heinzen

    出版 2016
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  14. 14
    Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

    Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase 由 Lily Paemka, Vinit B. Mahajan, Salleh N. Ehaideb, Jessica M. Skeie, Men Chee Tan, Shu Wu, Allison Cox, Levi P. Sowers, Jozef Gécz, Lachlan A. Jolly, Polly J. Ferguson, Benjamin W. Darbro, Amy L. Schneider, Ingrid E. Scheffer, Gemma L. Carvill, Heather C. Mefford, Hatem El‐Shanti, Stephen A. Wood, J. Robert Manak, Alexander G. Bassuk

    出版 2015
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  15. 15
    Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

    Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction 由 Levi P. Sowers, Lipin Loo, Ying Cheng Wu, Elizabeth Campbell, Jason D. Ulrich, Shu Wu, Lily Paemka, Thomas H. Wassink, Kacie J. Meyer, Xinyu Bing, Hatem El‐Shanti, Yuriy M. Usachev, Naoto Ueno, J. Robert Manak, Andrew J. Shepherd, Polly J. Ferguson, Benjamin W. Darbro, George B. Richerson, D P Mohapatra, John A. Wemmie, Alexander G. Bassuk

    出版 2013
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  16. 16
    Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

    Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy 由 Megan A. Waldrop, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, L. Medne, Richard S. Finkel, Anne M. Connolly, Thomas O. Crawford, Daniel B. Drachman, Nicolas Wein, Ali A. Habib, Monika Krzesniak‐Swinarska, Craig M. Zaidman, James J. Collins, Manu Jokela, Bjarne Udd, John Day, Gloria Ortiz‐Guerrero, Jeffrey Statland, Russell J. Butterfield, Diane M. Dunn, Robert B. Weiss, Kevin M. Flanigan

    出版 2022
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  17. 17
    Mutations in Extracellular Matrix Genes<i>NID1</i>and<i>LAMC1</i>Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles

    Mutations in Extracellular Matrix Genes<i>NID1</i>and<i>LAMC1</i>Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles 由 Benjamin W. Darbro, Vinit B. Mahajan, Lokesh Gakhar, Jessica M. Skeie, Elizabeth Campbell, Shu Wu, Xinyu Bing, Kathleen J. Millen, William B. Dobyns, John A. Kessler, Ali Jalali, James F. Cremer, Alberto M. Segre, J. Robert Manak, Kimberly A. Aldinger, Satoshi Suzuki, Nagato Natsume, Maya Ono, Huynh Dai Hai, Le Thi Viet, Sara Loddo, Enza Maria Valente, Laura Bernardini, Nitin P. Ghonge, Polly J. Ferguson, Alexander G. Bassuk

    出版 2013
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  18. 18
    A porcine model of neurofibromatosis type 1 that mimics the human disease

    A porcine model of neurofibromatosis type 1 that mimics the human disease 由 Katherine A. White, Vicki J. Swier, Jacob T. Cain, Jordan L. Kohlmeyer, David K. Meyerholz, Munir R. Tanas, Johanna Uthoff, Emily Hammond, Hua Li, Frank Rohret, Adam Goeken, Chun-Hung Chan, Mariah Leidinger, Shaikamjad Umesalma, Margaret R. Wallace, Rebecca D. Dodd, Karin Panzer, Amy Tang, Benjamin W. Darbro, Aubin Moutal, Song Cai, Wennan Li, Shreya S. Bellampalli, Rajesh Khanna, Christopher S. Rogers, Jessica C. Sieren, Dawn E. Quelle, Jill M. Weimer

    出版 2018
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  19. 19
    A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

    A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction 由 Joanne M. Hildebrand, Maria Kauppi, Ian J. Majewski, Zikou Liu, Allison Cox, Sanae Miyake, Emma J. Petrie, Michael Silk, Zhixiu Li, Maria C. Tanzer, Gabriela Brumatti, Samuel N. Young, Cathrine Hall, Sarah E. Garnish, Jason Corbin, Michael D. Stutz, Ladina Di Rago, Pradnya Gangatirkar, Emma C. Josefsson, Kristin A. Rigbye, Holly Anderton, James Rickard, Anne Tripaydonis, Julie M. Sheridan, Thomas Scerri, Victoria E. Jackson, Peter E. Czabotar, Jian‐Guo Zhang, Leila N. Varghese, Cody Allison, Marc Pellegrini, Gillian M. Tannahill, Esme C. Hatchell, Tracy A. Willson, Dina Stockwell, Carolyn A. de Graaf, Janelle E. Collinge, Adrienne A. Hilton, Natasha Silke, Sukhdeep K. Spall, Diep Chau, Vicki Athanasopoulos, Donald Metcalf, Ronald M. Laxer, Alexander G. Bassuk, Benjamin W. Darbro, Maria A. Fiatarone Singh, Nicole Vlahovich, David Hughes, Maria Kozlovskaia, David B. Ascher, Klaus Warnatz, Nils Venhoff, Jens Thiel, Christine Biben, Stefan Blum, John D. Reveille, Michael S. Hildebrand, Carola G. Vinuesa, Pamela McCombe, Matthew A. Brown, Benjamin T. Kile, Catriona McLean, Melanie Bahlo, Seth L. Masters, Hiroyasu Nakano, Polly J. Ferguson, James M. Murphy, Warren S. Alexander, John Silke

    出版 2020
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  20. 20
    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge 由 Catherine A. Brownstein, Alan H. Beggs, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C Flannery, Elizabeth T. DeChene, Meghan C. Towne, Sarah Savage, Emily Price, Ingrid A. Holm, Lovelace J. Luquette, Elaine Lyon, Joseph A. Majzoub, Peter Neupert, David P. McCallie, Peter Szolovits, Huntington F. Willard, Nancy J. Mendelsohn, Renee Temme, Richard S. Finkel, Sabrina W. Yum, Līvija Medne, Shamil Sunyaev, Ivan Adzhubey, Christopher A. Cassa, Paul IW de Bakker, Hatice Duzkale, Piotr Dworzyński, William G. Fairbrother, Laurent C. Francioli, Birgit Funke, Monica A. Giovanni, Robert E. Handsaker, Kasper Lage, Matthew S. Lebo, Monkol Lek, Ignaty Leshchiner, Daniel G. MacArthur, Heather M. McLaughlin, Michael F. Murray, Tune H. Pers, Paz Polak, Soumya Raychaudhuri, Heidi L. Rehm, Rachel Soemedi, Nathan O. Stitziel, Sara Vestecka, Jochen Supper, Claudia Gugenmus, Bernward Klocke, Alexander Hahn, Max Schubach, Mortiz Menzel, Saskia Biskup, Peter Freisinger, Mario C. Deng, Martin Braun, Sven Perner, Richard J. Smith, Janeen L Andorf, Jian Huang, Kelli K. Ryckman, Val C. Sheffield, Edwin M. Stone, Thomas Bair, E. Ann Black-Ziegelbein, Terry A. Braun, Benjamin W. Darbro, Adam P. DeLuca, Diana L. Kolbe, Todd E. Scheetz, A. Eliot Shearer, Rama Sompallae, Kai Wang, Alexander G. Bassuk, Erik Edens, Katherine D. Mathews, Steven A. Moore, Oleg A. Shchelochkov, Pamela Trapane, Aaron Bossler, Colleen A. Campbell, Jonathan W. Heusel, Anne E. Kwitek, Tara Maga, Karin Panzer, Thomas H. Wassink, Douglas J. Van Daele, Héla Azaiez, Kevin T. Booth, Nic Meyer, Michael M. Segal, Marc S. Williams, Gerard Tromp, Peter White, Donald J. Corsmeier, Sara Fitzgerald‐Butt, Gail E. Herman, Devon Lamb-Thrush

    出版 2014
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