Resultats de la cerca - Christopher Hartl

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  1. 1
    Evolutionary conservation and divergence of the human brain transcriptome

    Evolutionary conservation and divergence of the human brain transcriptome per William G. Pembroke, Christopher Hartl, Daniel H. Geschwind

    Publicat 2021
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  2. 2
    Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility

    Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility per Hyejung Won, Jerry I. Huang, Carli K. Opland, Christopher Hartl, Daniel H. Geschwind

    Publicat 2019
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  3. 3
    Coexpression network architecture reveals the brain-wide and multiregional basis of disease susceptibility

    Coexpression network architecture reveals the brain-wide and multiregional basis of disease susceptibility per Christopher Hartl, Gokul Ramaswami, William G. Pembroke, Sandrine Muller, Greta Pintacuda, Ashis Saha, Princy Parsana, Alexis Battle, Kasper Lage, Daniel H. Geschwind

    Publicat 2021
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  4. 4
    SM<scp>a</scp>SH: a benchmarking toolkit for human genome variant calling

    SM<scp>a</scp>SH: a benchmarking toolkit for human genome variant calling per Ameet Talwalkar, Jesse Liptrap, Julie Newcomb, Christopher Hartl, Jonathan Terhorst, Kristal Curtis, Ma’ayan Bresler, Yun S. Song, Michael I. Jordan, David A. Patterson

    Publicat 2014
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  5. 5
    Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

    Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms per Rebecca L. Walker, Gokul Ramaswami, Christopher Hartl, Nicholas Mancuso, Michael J. Gandal, Luis de la Torre-Ubieta, Bogdan Paşaniuc, Jason L. Stein, Daniel H. Geschwind

    Publicat 2019
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  6. 6
    Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap

    Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap per Michael J. Gandal, Jillian R. Haney, Neelroop Parikshak, Virpi Leppä, Gokul Ramaswami, Christopher Hartl, Andrew J. Schork, Vivek Appadurai, Alfonso Buil, Thomas Werge, Chunyu Liu, Kevin P. White, Daniel H. Geschwind

    Publicat 2019
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  7. 7
    Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism

    Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism per Neelroop Parikshak, Vivek Swarup, T. Grant Belgard, Manuel Irimia, Gokul Ramaswami, Michael J. Gandal, Christopher Hartl, Virpi Leppä, Luis de la Torre-Ubieta, Jerry I. Huang, Jennifer K. Lowe, Benjamin J. Blencowe, Steve Horvath, Daniel H. Geschwind

    Publicat 2016
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  8. 8
    From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

    From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline per Géraldine A. Van der Auwera, Mauricio O. Carneiro, Christopher Hartl, Ryan Poplin, Guillermo del Angel, Ami Levy‐Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault, Eric Banks, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark A. DePristo

    Publicat 2013
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  9. 9
    Variation in genome-wide mutation rates within and between human families

    Variation in genome-wide mutation rates within and between human families per Donald F. Conrad, Jonathan Keebler, Mark A. DePristo, Sarah Lindsay, Goo Jun, Ferrán Casals, Youssef Idaghdour, Christopher Hartl, Carlos Torroja, Kiran Garimella, Martine Zilversmit, Reed A. Cartwright, Guy A. Rouleau, Mark J. Daly, Eric A. Stone, Matthew E. Hurles, Philip Awadalla

    Publicat 2011
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  10. 10
    A framework for variation discovery and genotyping using next-generation DNA sequencing data

    A framework for variation discovery and genotyping using next-generation DNA sequencing data per Mark A. DePristo, Eric Banks, Ryan Poplin, Kiran Garimella, Jared Maguire, Christopher Hartl, Anthony Philippakis, Guillermo del Angel, Manuel A. Rivas, Matt Hanna, Aaron McKenna, Tim Fennell, Andrew Kernytsky, Andrey Sivachenko, Kristian Cibulskis, Stacey Gabriel, David Altshuler, Mark J. Daly

    Publicat 2011
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  11. 11
    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks per Elizabeth K. Ruzzo, Laura Pérez‐Cano, Jae-Yoon Jung, Lee-kai Wang, Dorna Kashef-Haghighi, Christopher Hartl, Chanpreet Singh, Jin Xu, Jackson N. Hoekstra, Olivia Leventhal, Virpi Leppä, Michael J. Gandal, Kelley Paskov, Nate Stockham, Damon Polioudakis, Jennifer K. Lowe, David A. Prober, Daniel H. Geschwind, Dennis P. Wall

    Publicat 2019
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  12. 12
    Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD

    Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD per Michael J. Gandal, Jillian R. Haney, Brie Wamsley, Chloe X. Yap, Sepideh Parhami, Prashant S. Emani, Nathan Chang, George Chen, Gil D. Hoftman, Diego de Alba, Gokul Ramaswami, Christopher Hartl, Arjun Bhattacharya, Chongyuan Luo, Ting Jin, Daifeng Wang, Riki Kawaguchi, Diana Quintero, Jing Ou, Ye Wu, Neelroop Parikshak, Vivek Swarup, T. Grant Belgard, Mark Gerstein, Bogdan Paşaniuc, Daniel H. Geschwind

    Publicat 2022
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  13. 13
    A Loss-of-Function Splice Acceptor Variant in <i>IGF2</i> Is Protective for Type 2 Diabetes

    A Loss-of-Function Splice Acceptor Variant in <i>IGF2</i> Is Protective for Type 2 Diabetes per Josep M. Mercader, Rachel G. Liao, Avery Davis Bell, Zachary Dymek, Karol Estrada, Taru Tukiainen, Alicia Huerta-Chagoya, Hortensia Moreno-Macías, Kathleen A. Jablonski, Robert L. Hanson, Geoffrey Walford, Ignasi Morán, Ling Chen, Vineeta Agarwala, María Luisa Ordóñez-Sánchez, Rosario Rodríguez-Guillén, M. Rodríguez‐Torres, Yayoi Segura-Kato, Humberto Garcia‐Ortíz, Federico Centeno-Cruz, Francisco Barajas‐Olmos, Lizz Caulkins, Sobha Puppala, Pierre Fontanillas, Amy L. Williams, Sílvia Bonàs‐Guarch, Christopher Hartl, Stephan Ripke, Katherine Tooley, Jacqueline M. Lane, Carlos Zerrweck, Angélica Martínez‐Hernández, Emilio J. Córdova, Elvia Mendoza‐Caamal, Cecilia Contreras-Cubas, María Elena González-Villalpando, Ivette Cruz‐Bautista, Liliana Muñóz-Hernández, Donají Gómez‐Velasco, Ulises Alvirde, Brian E. Henderson, Lynne R. Wilkens, Loı̈c Le Marchand, Olimpia Arellano‐Campos, Laura Riba, Maegan Harden, Stacey Gabriel, Hanna E. Abboud, Maria L. Cortés, M. Revilla, Sergio Islas‐Andrade, Xavier Soberón, Joanne E. Curran, Christopher P. Jenkinson, Ralph A. DeFronzo, Donna M. Lehman, Craig L. Hanis, Graeme I. Bell, Michael Boehnke, John Blangero, Ravindranath Duggirala, Richa Saxena, Daniel G. MacArthur, Jorge Ferrer, Steven A. McCarroll, David Torrents, William C. Knowler, Leslie J. Baier, Noël P. Burtt, Clicerio González‐Villalpando, Christopher A. Haiman, Carlos A. Aguilar‐Salinas, Teresa Tusié‐Luna, Jason Flannick, Suzanne B.R. Jacobs, Lorena Orozco, David Altshuler, José C. Florez

    Publicat 2017
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  14. 14
    Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

    Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap per Michael J. Gandal, Jillian R. Haney, Neelroop Parikshak, Virpi Leppä, Gokul Ramaswami, Christopher Hartl, Andrew J. Schork, Vivek Appadurai, Alfonso Buil, Thomas Werge, Chunyu Liu, Kevin P. White, Steve Horvath, Daniel H. Geschwind, Nenad Šestan, Flora M. Vaccarino, Mark Gerstein, Sherman M. Weissman, Sirisha Pochareddy, Matthew W. State, James A. Knowles, Peggy Farnham, Schahram Akbarian, Dalila Pinto, Harm Van Baekl, Stella Dracheva, Andrew E. Jaffe, Thomas M. Hyde, Peter P. Zandi, Gregory E. Crawford, Pat Sullivan, Wesley K. Thompson, Preben Bo Mortensen, Esben Agerbo, Marianne Giørtz Pedersen, Carsten Bøcker Pedersen, Ole Mors, Anders D. Børglum, Merete Nordentoft, David M. Hougaard, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Alicia R. Martin, Ashley Dumont, Christine Stevens, Tracy Air, Daniel P. Howrigan, Duncan S. Palmer, Elise Robinson, Kyle F. Satterstrom, Felecia Cerrato, Hailiang Huang, Jacqueline I. Goldstein, Jennifer L. Moran, Joanna Martin Julian, M. Alonge Kimberly, C. Seed Patrick, Patrick Turley, Raymond K. Walters, Rich Belliveau, Stephan Ripke, Timothy Poterba, Mark J. Daly, Benjamin M. Neale, Menachem Fromer, Panos Roussos, Jessica Johnson, Hardik Shah, Milind Mahajan, Eric E. Schadt, Vahram Haroutunian, Douglas M. Ruderfer, Joseph D. Buxbaum, Solveig K. Sieberts, Kristen K. Dang, Ben Logsdon, Lara M. Mangravite, Mette A. Peters, Raquel E. Gur, Chang-Gyu Hahn, Bernie Devlin, Lambertus Klei, David A. Lewis, Barbara K. Lipska, Keisuke Hirai, Hiroyoshi Toyoshiba, Enrico Domenici

    Publicat 2018
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  15. 15
    Rare variants in <i>PPARG</i> with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

    Rare variants in <i>PPARG</i> with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes per Amit R. Majithia, Jason Flannick, Peter Shahinian, Michael H. Guo, Mark‐Anthony Bray, Pierre Fontanillas, Stacey Gabriel, Evan D. Rosen, David Altshuler, Jason Flannick, Man Li, Christopher Hartl, Vineeta Agarwala, Pierre Fontanillas, Todd J. Green, Eric Banks, Mark A. DePristo, Ryan Poplin, Khalid Shakir, Timothy R. Fennell, Pål R. Njølstad, David Altshuler, Noël P. Burtt, Stacey Gabriel, Christian Fuchsberger, Hun Min Kang, Xueling Sim, Clement Ma, Adam E. Locke, Thomas W. Blackwell, Anne Jackson, Tanya M. Teslovich, Heather M. Stringham, Peter S. Chines, Phoenix Kwan, Jeroen R. Huyghe, Adrian Y. Tan, Goo Jun, Michael L. Stitzel, Richard N. Bergman, Lori L. Bonnycastle, Jaakko Tuomilehto, Francis S. Collins, Laura J. Scott, Karen L. Mohlke, Gonçalo R. Abecasis, Michael Boehnke, Tim M. Strom, Christian Gieger, Martina Müller‐Nurasyid, Harald Grallert, Jennifer Kriebel, Janina S. Ried, Martin Hrabě de Angelis, Cornelia Huth, Christa Meisinger, Annette Peters, Wolfgang Rathmann, Konstantin Strauch, Thomas Meitinger, Jasmina Kravić, Peter Algren, Claes Ladenvall, Tiinamaija Toumi, Bo Isomaa, Leif Groop, Kyle J. Gaulton, Loukas Moutsianas, Manny Rivas, Richard D. Pearson, Anubha Mahajan, Inga Prokopenko, Ashish Kumar, John R. B. Perry, Bryan Howie, Martijn van de Bunt, Kerrin S. Small, Cecilia M. Lindgren, Gerton Lunter, Neil Robertson, W Rayner, Andrew H. Morris, David Buck, Andrew T. Hattersley, Tim D. Spector, Gil McVean, Timothy M. Frayling, Peter Donnelly, Mark I. McCarthy, Namrata Gupta, Herman A. Taylor, Ervin R. Fox, Christopher Newton Cheh, James Wilson, Christopher J. O’Donnell, Sekar Kathiresan, Joel N. Hirschhorn, J G Seidman, Stacey Gabriel, Christine E. Seidman

    Publicat 2014
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  16. 16
    The genetic architecture of type 2 diabetes

    The genetic architecture of type 2 diabetes per Christian Fuchsberger, Jason Flannick, Tanya M. Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J. Gaulton, Clement Ma, Pierre Fontanillas, Loukas Moutsianas, Davis J. McCarthy, Manuel A. Rivas, John R. B. Perry, Xueling Sim, Thomas W. Blackwell, Neil R. Robertson, Nigel W. Rayner, Pablo Cingolani, Adam E. Locke, Juan Fernández Tajes, Heather M. Highland, Josée Dupuis, Peter S. Chines, Cecilia M. Lindgren, Christopher Hartl, Anne Jackson, Han Chen, Jeroen R. Huyghe, Martijn van de Bunt, Richard D. Pearson, Ashish Kumar, Martina Müller‐Nurasyid, Niels Grarup, Heather M. Stringham, Eric R. Gamazon, Jaehoon Lee, Yuhui Chen, Robert A. Scott, Jennifer E. Below, Peng Chen, Jinyan Huang, Min Jin Go, Michael L. Stitzel, Dorota Pasko, Stephen C. J. Parker, Tibor V. Varga, Todd Green, Nicola L. Beer, Aaron Day-Williams, Teresa Ferreira, Tasha E. Fingerlin, Momoko Horikoshi, Cheng Hu, Iksoo Huh, M. Kamran Ikram, Bong-Jo Kim, Yongkang Kim, Young Jin Kim, Min‐Seok Kwon, Juyoung Lee, Selyeong Lee, Keng‐Han Lin, Taylor J. Maxwell, Yoshihiko Nagai, Xu Wang, Ryan Welch, Joon Yoon, Weihua Zhang, Nir Barzilai, Benjamin F. Voight, Bok‐Ghee Han, Christopher P. Jenkinson, Teemu Kuulasmaa, Johanna Kuusisto, Alisa K. Manning, Maggie C. Y. Ng, Colin N. A. Palmer, Beverley Balkau, Alena Stančáková, Hanna E. Abboud, Heiner Boeing, Vilmantas Giedraitis, Dorairaj Prabhakaran, Omri Gottesman, Berthold Lausen, Jason Carey, Phoenix Kwan, George Grant, Joshua D. Smith, Benjamin M. Neale, Shaun Purcell, Adam S. Butterworth, Joanna M. M. Howson, Heung Man Lee, Yingchang Lu, Soo‐Heon Kwak, Wei Zhao, John Danesh, Vincent K. Lam, Kyong Soo Park, Danish Saleheen

    Publicat 2016
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  17. 17
    A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

    A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk per Alisa K. Manning, Heather M. Highland, Jessica A. Gasser, Xueling Sim, Taru Tukiainen, Pierre Fontanillas, Niels Grarup, Manuel A. Rivas, Anubha Mahajan, Adam E. Locke, Pablo Cingolani, Tune H. Pers, Ana Viñuela, Andrew Brown, Ying Wu, Jason Flannick, Christian Fuchsberger, Eric R. Gamazon, Kyle J. Gaulton, Hae Kyung Im, Tanya M. Teslovich, Thomas W. Blackwell, Jette Bork‐Jensen, Noël P. Burtt, Yuhui Chen, Todd J. Green, Christopher Hartl, Hyun Min Kang, Ashish Kumar, Claes Ladenvall, Clement Ma, Loukas Moutsianas, Richard D. Pearson, John R. B. Perry, Nigel W. Rayner, Neil R. Robertson, Laura J. Scott, Martijn van de Bunt, Johan G. Eriksson, Antti Jula, Seppo Koskinen, Terho Lehtimäki, Aarno Palotie, Olli T. Raitakari, Suzanne B.R. Jacobs, Jennifer Wessel, Audrey Y. Chu, Robert A. Scott, Mark O. Goodarzi, Christine Blancher, Gemma Buck, David Buck, Peter S. Chines, Stacey Gabriel, Anette P. Gjesing, Christopher J. Groves, Mette Hollensted, Jeroen R. Huyghe, Anne Jackson, Goo Jun, Johanne Marie Justesen, Massimo Mangino, Jacquelyn Murphy, Matt J. Neville, Robert C. Onofrio, Kerrin S. Small, Heather M. Stringham, Joseph Trakalo, Eric Banks, Jason Carey, Mauricio O. Carneiro, Mark A. DePristo, Yossi Farjoun, Timothy R. Fennell, Jacqueline I. Goldstein, George Grant, Martin Hrabě de Angelis, Jared Maguire, Benjamin M. Neale, Ryan Poplin, Shaun Purcell, Thomas Schwarzmayr, Khalid Shakir, Joshua D. Smith, Tim M. Strom, Thomas Wieland, Jaana Lindström, Ivan Brandslund, Cramer Christensen, Gabriela Surdulescu, Timo A. Lakka, Alex S. F. Doney, Peter M. Nilsson, Nicholas J. Wareham, Claudia Langenberg, Tibor V. Varga, Paul W. Franks, Olov Rolandsson, Anders H. Rosengren, Vidya S. Farook

    Publicat 2017
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