Risultati della ricerca - Ryan L. Collins

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  1. 1
    Indexcov: fast coverage quality control for whole-genome sequencing

    Indexcov: fast coverage quality control for whole-genome sequencing di Brent S. Pedersen, Ryan L. Collins, Michael E. Talkowski, Aaron R. Quinlan

    Pubblicazione 2017
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  2. 2
    An information-gain approach to detecting three-way epistatic interactions in genetic association studies

    An information-gain approach to detecting three-way epistatic interactions in genetic association studies di Ting Hu, Yuanzhu Chen, Jeff Kiralis, Ryan L. Collins, Christian Wejse, Giorgio Sirugo, Scott M. Williams, Jason H. Moore

    Pubblicazione 2013
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  3. 3
    Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing

    Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing di Adrian Veres, Bridget S. Gosis, Qiurong Ding, Ryan L. Collins, Ashok Ragavendran, Harrison Brand, Serkan Erdin, Chad A. Cowan, Michael E. Talkowski, Kiran Musunuru

    Pubblicazione 2014
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  4. 4
    Independent gene duplications of the YidC/Oxa/Alb3 family enabled a specialized cotranslational function

    Independent gene duplications of the YidC/Oxa/Alb3 family enabled a specialized cotranslational function di Soledad Funes, Adnan Hasona, Heike Bauerschmitt, Caroline Grubbauer, Frank Kauff, Ryan L. Collins, Paula J. Crowley, Sara R. Palmer, L. Jeannine Brady, Johannes M. Herrmann

    Pubblicazione 2009
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  5. 5
    Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

    Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation di Harrison Brand, Ryan L. Collins, Carrie Hanscom, Jill A. Rosenfeld, Vamsee Pillalamarri, Matthew R. Stone, Fontina Kelley, Tamara Mason, Lauren Margolin, Stacey Eggert, Elyse Mitchell, Jennelle C. Hodge, James F. Gusella, Stephan Sanders, Michael E. Talkowski

    Pubblicazione 2015
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  6. 6
    GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

    GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data di Mehrtash Babadi, Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker, David Benjamin, Xuefang Zhao, Konrad J. Karczewski, Isaac Wong, Ryan L. Collins, Alba Sanchis‐Juan, Harrison Brand, Eric Banks, Michael E. Talkowski

    Pubblicazione 2023
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  7. 7
    Efficient Ablation of Genes in Human Hematopoietic Stem and Effector Cells using CRISPR/Cas9

    Efficient Ablation of Genes in Human Hematopoietic Stem and Effector Cells using CRISPR/Cas9 di Pankaj Kumar Mandal, Leonardo M. R. Ferreira, Ryan L. Collins, Torsten Meißner, Christian L. Boutwell, Max Friesen, Vladimir Vrbanac, Brian S. Garrison, Alexei Stortchevoi, David Bryder, Kiran Musunuru, Harrison Brand, Andrew M. Tager, Todd M. Allen, Michael E. Talkowski, Derrick J. Rossi, Chad A. Cowan

    Pubblicazione 2014
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  8. 8
    Rare germline structural variants increase risk for pediatric solid tumors

    Rare germline structural variants increase risk for pediatric solid tumors di Riaz Gillani, Ryan L. Collins, Jett Crowdis, Amanda Garza, Jill K. Jones, Mark Walker, Alba Sanchis-Juan, Christopher W. Whelan, Emma Pierce‐Hoffman, Michael E. Talkowski, Harrison Brand, Kevin M. Haigis, Jaclyn LoPiccolo, Saud H. AlDubayan, Alexander Gusev, Brian D. Crompton, Katherine A. Janeway, Eliezer M. Van Allen

    Pubblicazione 2025
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  9. 9
    Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders

    Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders di Harrison Brand, Vamsee Pillalamarri, Ryan L. Collins, Stacey Eggert, Colm Ó'Dúshláine, Ellen B. Braaten, Matthew R. Stone, Kimberly Chambert, Nathan D. Doty, Carrie Hanscom, Jill A. Rosenfeld, Hillary L. Ditmars, Jessica E. Blais, Ryan E. Mills, Charles Lee, James F. Gusella, Steven A. McCarroll, Jordan W. Smoller, Michael E. Talkowski, Alysa E. Doyle

    Pubblicazione 2014
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  10. 10
    Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

    Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies di Xuefang Zhao, Ryan L. Collins, Wan‐Ping Lee, Alexandra M. Weber, Yukyung Jun, Qihui Zhu, Ben Weisburd, Yongqing Huang, Peter A. Audano, Harold Wang, Mark Walker, Chelsea Lowther, Jack Fu, Mark Gerstein, Scott E. Devine, Tobias Marschall, Jan O. Korbel, Evan E. Eichler, Mark Chaisson, Charles Lee, Ryan E. Mills, Harrison Brand, Michael E. Talkowski

    Pubblicazione 2021
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  11. 11
    Loss of δ-catenin function in severe autism

    Loss of δ-catenin function in severe autism di Tychele N. Turner, Kamal Sharma, Edwin C. Oh, Yangfan P. Liu, Ryan L. Collins, Maria X. Sosa, Dallas R. Auer, Harrison Brand, Stephan Sanders, Daniel Moreno‐De‐Luca, Vasyl Pihur, Teri M. Plona, Kristen Pike, Daniel Soppet, Michael W. Smith, Sau Wai Cheung, Christa Lese Martin, Matthew W. State, Michael E. Talkowski, Edwin H. Cook, Richard L. Huganir, Nicholas Katsanis, Aravinda Chakravarti

    Pubblicazione 2015
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  12. 12
    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes di Christina Halgren, Nete Munk Nielsen, Lusine Nazaryan‐Petersen, Asli Silahtaroglu, Ryan L. Collins, Chelsea Lowther, Susanne Kjærgaard, Morten Frisch, Maria Kirchhoff, Karen Brøndum‐Nielsen, Allan Lind-Thomsen, Yuan Mang, Zahra El-Schich, Claire A. Boring, Mana M. Mehrjouy, Peter K.A. Jensen, Christina Fagerberg, Lotte Krogh, Jan Hansen, Thue Bryndorf, Claus Hansen, Michael E. Talkowski, Mads Bak, Niels Tommerup, Iben Bache

    Pubblicazione 2018
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  13. 13
    Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction

    Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction di Amit V. Khera, Mark Chaffin, Seyedeh M. Zekavat, Ryan L. Collins, Carolina Roselli, Pradeep Natarajan, Judith H. Lichtman, Gail D’Onofrio, Jennifer A. Mattera, Rachel P. Dreyer, John A. Spertus, Kent D. Taylor, Bruce M. Psaty, Stephen S. Rich, Wendy S. Post, Namrata Gupta, Stacey Gabriel, Eric S. Lander, Yii‐Der Ida Chen, Michael E. Talkowski, Jerome I. Rotter, Harlan M. Krumholz, Sekar Kathiresan

    Pubblicazione 2019
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  14. 14
    Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

    Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models di Derek J.C. Tai, Parisa Razaz, Serkan Erdin, Dadi Gao, Jennifer Wang, Xander Nuttle, Celine E. de Esch, Ryan L. Collins, Benjamin Currall, Kathryn O’Keefe, Nicholas D. Burt, Rachita Yadav, Lily Wang, Kiana Mohajeri, Tatsiana Aneichyk, Ashok Ragavendran, Alexei Stortchevoi, Elisabetta Morini, Weiyuan Ma, Diane Lucente, Alex Hastie, Raymond J. Kelleher, Roy H. Perlis, Michael E. Talkowski, James F. Gusella

    Pubblicazione 2022
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  15. 15
    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis di Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire Redin, Ryan L. Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F. Crandall, Pamela Gerrol, Mark A. Hayden, Naveed Hussain, Bibi Kanengisser‐Pines, Sibel Kantarci, Brynn Levy, Michael J. Macera, Fabiola Quintero‐Rivera, Erica Spiegel, Blair Stevens, Janet E. Ulm, Dorothy Warburton, Louise Wilkins‐Haug, Naomi Yachelevich, James F. Gusella, Michael E. Talkowski, Cynthia C. Morton

    Pubblicazione 2016
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  16. 16
    Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

    Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome di Ryan L. Collins, Harrison Brand, Claire Redin, Carrie Hanscom, Caroline Antolik, Matthew R. Stone, Joseph Glessner, Tamara Mason, Giulia Pregno, Naghmeh Dorrani, Giorgia Mandrile, Daniela Giachino, Danielle Perrin, Cole Walsh, Michelle Cipicchio, Maura Costello, Alexei Stortchevoi, Joon‐Yong An, Benjamin Currall, Catarina M. Seabra, Ashok Ragavendran, Lauren Margolin, Julián A. Martínez-Agosto, Diane Lucente, Brynn Levy, Stephan Sanders, Ronald J. Wapner, Fabiola Quintero‐Rivera, Wigard P. Kloosterman, Michael E. Talkowski

    Pubblicazione 2017
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  17. 17
    Genome-wide enhancer maps link risk variants to disease genes

    Genome-wide enhancer maps link risk variants to disease genes di Joseph Nasser, Drew T. Bergman, Charles P. Fulco, Philine Guckelberger, Benjamin R. Doughty, Tejal A. Patwardhan, Thouis R. Jones, Tung H. Nguyen, Jacob C. Ulirsch, Fritz Lekschas, Kristy S. Mualim, Heini M. Natri, E. Weeks, Glen Munson, Michael Kane, Helen Y. Kang, Ang Cui, John Ray, Thomas Eisenhaure, Ryan L. Collins, Kushal K. Dey, Hanspeter Pfister, Alkes L. Price, Charles B. Epstein, Anshul Kundaje, Ramnik J. Xavier, Mark J. Daly, Hailiang Huang, Hilary K. Finucane, Nir Hacohen, Eric S. Lander, J Engreitz

    Pubblicazione 2021
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  18. 18
    Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders

    Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders di Gilles Maussion, Cristiana Cruceanu, Jill A. Rosenfeld, Scott C. Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L. Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Kiyomi Ota, Christina M. Hultman, Colm O’Dushlaine, Steve McCarroll, Martin Alda, Sébastien Jacquemont, Zehra Ordulu, Christian R. Marshall, Melissa T. Carter, Lisa G. Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C. Morton, James F. Gusella, Gustavo Turecki, Dimitri J. Stavropoulos, Patrick F. Sullivan, Stephen W. Scherer, Michael E. Talkowski, Carl Ernst

    Pubblicazione 2016
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  19. 19
    Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

    Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder di Joon‐Yong An, Kevin Lin, Lingxue Zhu, Donna M. Werling, Shan Dong, Harrison Brand, Harold Z. Wang, Xuefang Zhao, Grace Schwartz, Ryan L. Collins, Benjamin Currall, Claudia Dastmalchi, Jeanselle Dea, Clif Duhn, Michael C. Gilson, Lambertus Klei, Lindsay Liang, Eirene Markenscoff-Papadimitriou, Sirisha Pochareddy, Nadav Ahituv, Joseph D. Buxbaum, Hilary Coon, Mark J. Daly, Young S. Kim, Gábor Marth, Benjamin M. Neale, Aaron R. Quinlan, John L.R. Rubenstein, Nenad Šestan, Matthew W. State, A. Jeremy Willsey, Michael E. Talkowski, Bernie Devlin, Kathryn Roeder, Stephan Sanders

    Pubblicazione 2018
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  20. 20
    Genome‐Wide Analysis of Structural Variants in Parkinson Disease

    Genome‐Wide Analysis of Structural Variants in Parkinson Disease di Kimberley J. Billingsley, Jinhui Ding, Pilar Álvarez Jerez, Anastasia Illarionova, Kristin Levine, Francis P. Grenn, Mary B. Makarious, Anni Moore, Dan Vitale, Xylena Reed, Dena Hernández, Ali Torkamani, Mina Ryten, John Hardy, Ruth Chia, Sonja W. Scholz, Bryan J. Traynor, Clifton L. Dalgard, Debra Ehrlich, Toshiko Tanaka, Luigi Ferrucci, Thomas G. Beach, Geidy E. Serrano, John P. Quinn, Vivien J. Bubb, Ryan L. Collins, Xuefang Zhao, Mark Walker, Emma Pierce‐Hoffman, Harrison Brand, Michael E. Talkowski, Bradford Casey, Mark Cookson, Androo J. Markham, Mike A. Nalls, Medhat Mahmoud, Fritz J. Sedlazeck, Cornelis Blauwendraat, J. Raphael Gibbs, Andrew Singleton

    Pubblicazione 2023
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