Hakutulokset - Khalid Shakir

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  1. 1
    Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

    Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 Tekijä Minal Çalışkan, Jessica X. Chong, Lawrence H. Uricchio, Rebecca L. Anderson, Peixian Chen, Carrie Sougnez, Kiran Garimella, Stacey Gabriel, Mark A. DePristo, Khalid Shakir, Dietrich Matern, Soma Das, Darrel Waggoner, Dan L. Nicolae, Carole Ober

    Julkaistu 2011
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  2. 2
    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 Tekijä 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

    Julkaistu 2013
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  3. 3
    Scaling accurate genetic variant discovery to tens of thousands of samples

    Scaling accurate genetic variant discovery to tens of thousands of samples Tekijä Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo, Tim Fennell, Mauricio O. Carneiro, Géraldine A. Van der Auwera, David E. Kling, Laura D. Gauthier, Ami Levy‐Moonshine, David Roazen, Khalid Shakir, Joel Thibault, Sheila Chandran, Chris Whelan, Monkol Lek, Stacey Gabriel, Mark J. Daly, Ben Neale, Daniel G. MacArthur, Eric Banks

    Julkaistu 2017
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  4. 4
    Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

    Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls Tekijä Li Liu, Aniko Sabo, Benjamin M. Neale, Uma Nagaswamy, Christine Stevens, Elaine T. Lim, Corneliu Bodea, Donna M. Muzny, Jeffrey G. Reid, Eric Banks, Hilary Coon, Mark A. DePristo, Huyen Dinh, Tim Fennel, Jason Flannick, Stacey Gabriel, Kiran Garimella, Shannon Gross, Alicia Hawes, Lora Lewis, Vladimir Makarov, Jared Maguire, Irene Newsham, Ryan Poplin, Stephan Ripke, Khalid Shakir, Kaitlin E. Samocha, Yuanqing Wu, Eric Boerwinkle, Joseph D. Buxbaum, Edwin H. Cook, Bernie Devlin, Gerard D. Schellenberg, James S. Sutcliffe, Mark J. Daly, Richard A. Gibbs, Kathryn Roeder

    Julkaistu 2013
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  5. 5
    A polygenic burden of rare disruptive mutations in schizophrenia

    A polygenic burden of rare disruptive mutations in schizophrenia Tekijä Shaun Purcell, Jennifer L. Moran, Menachem Fromer, Douglas M. Ruderfer, Nadia Solovieff, Panos Roussos, Colm Ó'Dúshláine, Kimberly Chambert, Sarah E. Bergen, Anna K. Kähler, Laramie E. Duncan, Eli Stahl, Giulio Genovese, Esperanza Fernández, Mark O. Collins, Noboru H. Komiyama, Jyoti S. Choudhary, Patrik K. E. Magnusson, Eric Banks, Khalid Shakir, Kiran Garimella, Tim Fennell, Mark A. DePristo, Seth G. N. Grant, Stephen J. Haggarty, Stacey Gabriel, Edward M. Scolnick, Eric S. Lander, Christina M. Hultman, Patrick F. Sullivan, Steven A. McCarroll, Pamela Sklar

    Julkaistu 2014
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  6. 6
    Patterns and rates of exonic de novo mutations in autism spectrum disorders

    Patterns and rates of exonic de novo mutations in autism spectrum disorders Tekijä Benjamin M. Neale, Yan Kou, Li Liu, Avi Ma’ayan, Kaitlin E. Samocha, Aniko Sabo, Chiao‐Feng Lin, Christine Stevens, Li-San Wang, Vladimir Makarov, Paz Polak, Seungtai Yoon, Jared Maguire, Emily L. Crawford, Nicholas G. Campbell, Evan Geller, Otto Valladares, Chad Schafer, Han Liu, Tuo Zhao, Guiqing Cai, Jayon Lihm, Ruth Dannenfelser, Omar Jabado, Zuleyma Peralta, Uma Nagaswamy, Donna M. Muzny, Jeffrey G. Reid, Irene Newsham, Yuanqing Wu, Lora Lewis, Yi Han, Benjamin F. Voight, Elaine T. Lim, Elizabeth J. Rossin, Andrew Kirby, Jason Flannick, Menachem Fromer, Khalid Shakir, Tim Fennell, Kiran Garimella, Eric Banks, Ryan Poplin, Stacey Gabriel, Mark A. DePristo, Jack R. Wimbish, Braden Boone, Shawn Levy, Catalina Betancur, Shamil Sunyaev, Eric Boerwinkle, Joseph D. Buxbaum, Edwin H. Cook, Bernie Devlin, Richard A. Gibbs, Kathryn Roeder, Gerard D. Schellenberg, James S. Sutcliffe, Mark J. Daly

    Julkaistu 2012
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  7. 7
    Analysis of protein-coding genetic variation in 60,706 humans

    Analysis of protein-coding genetic variation in 60,706 humans Tekijä Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Kaitlin E. Samocha, Eric Banks, Timothy R. Fennell, Anne O’Donnell‐Luria, James S. Ware, Andrew Hill, Beryl B. Cummings, Taru Tukiainen, Daniel P. Birnbaum, Jack A. Kosmicki, Laramie E. Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce‐Hoffman, Joanne Berghout, D.N. Cooper, Nicole Deflaux, Mark A. DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura D. Gauthier, Jackie Goldstein, Namrata Gupta, Daniel P. Howrigan, Adam Kieżun, Mitja Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M. Peloso, Ryan Poplin, Manuel A. Rivas, Valentín Ruano-Rubio, Samuel A. Rose, Douglas M. Ruderfer, Khalid Shakir, Peter D. Stenson, Christine Stevens, Brett Thomas, Grace Tiao, Maria T. Tusie-Luna, Ben Weisburd, Hong‐Hee Won, Dongmei Yu, David Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosúa, José C. Florez, Stacey Gabriel, Gad Getz, Stephen J. Glatt, Christina M. Hultman, Sekar Kathiresan, Markku Laakso, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M. Neale, Aarno Palotie, Shaun Purcell, Danish Saleheen, Jeremiah M. Scharf, Pamela Sklar, Patrick F. Sullivan, Jaakko Tuomilehto, Ming T. Tsuang, Hugh Watkins, James G. Wilson, Mark J. Daly, Daniel G. MacArthur

    Julkaistu 2016
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  8. 8
    Analysis of protein-coding genetic variation in 60,706 humans

    Analysis of protein-coding genetic variation in 60,706 humans Tekijä Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Kaitlin E. Samocha, Eric Banks, Timothy R. Fennell, Anne O’Donnell‐Luria, James S. Ware, Andrew Hill, Beryl B. Cummings, Taru Tukiainen, Daniel P. Birnbaum, Jack A. Kosmicki, Laramie E. Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce‐Hoffman, Joanne Berghout, D.N. Cooper, Nicole Deflaux, Mark A. DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura D. Gauthier, Jackie Goldstein, Namrata Gupta, Daniel P. Howrigan, Adam Kieżun, Mitja Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M. Peloso, Ryan Poplin, Manuel A. Rivas, Valentín Ruano-Rubio, Samuel A. Rose, Douglas M. Ruderfer, Khalid Shakir, Peter D. Stenson, Christine Stevens, Brett Thomas, Grace Tiao, Maria T. Tusie-Luna, Ben Weisburd, Hong‐Hee Won, Dongmei Yu, David Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosúa, José C. Florez, Stacey Gabriel, Gad Getz, Stephen J. Glatt, Christina M. Hultman, Sekar Kathiresan, Markku Laakso, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M. Neale, Aarno Palotie, Shaun Purcell, Danish Saleheen, Jeremiah M. Scharf, Pamela Sklar, Patrick F. Sullivan, Jaakko Tuomilehto, Ming T. Tsuang, Hugh Watkins, James G. Wilson, Mark J. Daly, Daniel G. MacArthur

    Julkaistu 2015
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  9. 9
    Analysis of protein-coding genetic variation in 60,706 humans

    Analysis of protein-coding genetic variation in 60,706 humans Tekijä Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Kaitlin E. Samocha, Eric Banks, Timothy R. Fennell, Anne O’Donnell‐Luria, James S. Ware, Andrew J. Hill, Beryl B. Cummings, Taru Tukiainen, Daniel P. Birnbaum, Jack A. Kosmicki, Laramie E. Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce‐Hoffman, Joanne Berghout, D.N. Cooper, Nicole Deflaux, Mark A. DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura D. Gauthier, Jackie Goldstein, Namrata Gupta, Daniel P. Howrigan, Adam Kieżun, Mitja Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M. Peloso, Ryan Poplin, Manuel A. Rivas, Valentín Ruano-Rubio, Samuel A. Rose, Douglas M. Ruderfer, Khalid Shakir, Peter D. Stenson, Christine Stevens, Brett Thomas, Grace Tiao, Maria T. Tusie-Luna, Ben Weisburd, Hong‐Hee Won, Dongmei Yu, David Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosúa, José C. Florez, Stacey Gabriel, Gad Getz, Stephen J. Glatt, Christina M. Hultman, Sekar Kathiresan, Markku Laakso, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M. Neale, Aarno Palotie, Shaun Purcell, Danish Saleheen, Jeremiah M. Scharf, Pamela Sklar, Patrick F. Sullivan, Jaakko Tuomilehto, Ming T. Tsuang, Hugh Watkins, James G. Wilson, Mark J. Daly, Daniel G. MacArthur, Abboud, Abecasis, Aguilar-Salinas, Arellano-Campos, Atzmon, Aukrust, Barr, Bell, Bergen, Bjørkhaug, Blangero, Bowden, Budman, Burtt, Centeno-Cruz, Chambers, Chambert, Clarke, Collins, Coppola, Córdova

    Julkaistu 2016
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  10. 10
    Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

    Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel Tekijä Olivier Delaneau, Jonathan Marchini, Gil McVean, Peter Donnelly, Gerton Lunter, Jonathan Marchini, Simon Myers, Anjali Gupta Hinch, Zamin Iqbal, Iain Mathieson, Andy Rimmer, Dionysia K. Xifara, Angeliki Kerasidou, Claire Churchhouse, Olivier Delaneau, David Altshuler, Stacey Gabriel, Eric S. Lander, Namrata Gupta, Mark J. Daly, Mark A. DePristo, Eric Banks, Gaurav Bhatia, Mauricio O. Carneiro, Guillermo del Angel, Giulio Genovese, Robert E. Handsaker, Chris Hart, Steven A. McCarroll, James Nemesh, Ryan Poplin, S. F. Schaffner, Khalid Shakir, Pardis C. Sabeti, Sharon R. Grossman, Shervin Tabrizi, Ridhi Tariya, Heng Li, David Reich, Richard Durbin, Matthew E. Hurles, Senduran Balasubramaniam, John H. Burton, Petr Danecek, Thomas Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael A. Quail, Qasim Ayub, Yuan Chen, Alison J. Coffey, Vincenza Colonna, Ni Huang, Luke Jostins, Aylwyn Scally, Klaudia Walter, Yali Xue, Goo Jun, Ben Blackburne, Sarah Lindsay, Zemin Ning, Adam Frankish, Jennifer Harrow, Chris Tyler‐Smith, Gonalo R. Abecasis, Hyun Min Kang, Paul Anderson, Tom Blackwell, Fabio Busonero, Christian Fuchsberger, Goo Jun, Andrea Maschio, Eleonora Porcu, Carlo Sidore, Adrian Tan, Mary Kate Trost, David Bentley, Russell Grocock, Sean Humphray, Terena James, Zoya Kingsbury, Markus Bauer, R. Keira Cheetham, Tony Cox, Michael A. Eberle, Lisa Murray, Richard J. Shaw, Aravinda Chakravarti, Andrew G. Clark, Alon Keinan, Juan L. Rodriguez‐Flores, Francisco M. De La Vega, Jeremiah D. Degenhardt, Evan E. Eichler, Paul Flicek, Laura Clarke, Rasko Leinonen, Richard E. Smith, Xiangqun Zheng-Bradley

    Julkaistu 2014
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  11. 11
    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 Tekijä 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

    Julkaistu 2014
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  12. 12
    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 Tekijä 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

    Julkaistu 2017
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