检索结果 - Cornelis A. Albers

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  1. 1
    New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

    New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome 由 Cornelis A. Albers, Ruth Newbury‐Ecob, Willem H. Ouwehand, Cédric Ghevaert

    出版 2013
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  2. 2
    ONECUT transcription factors induce neuronal characteristics and remodel chromatin accessibility

    ONECUT transcription factors induce neuronal characteristics and remodel chromatin accessibility 由 Jori van der Raadt, Sebastianus H. C. van Gestel, Nael Nadif Kasri, Cornelis A. Albers

    出版 2019
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  3. 3
    Dindel: Accurate indel calls from short-read data

    Dindel: Accurate indel calls from short-read data 由 Cornelis A. Albers, Gerton Lunter, Daniel G. MacArthur, Gil McVean, Willem H. Ouwehand, Richard Durbin

    出版 2010
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  4. 4
    Rapid Neuronal Differentiation of Induced Pluripotent Stem Cells for Measuring Network Activity on Micro-electrode Arrays

    Rapid Neuronal Differentiation of Induced Pluripotent Stem Cells for Measuring Network Activity on Micro-electrode Arrays 由 Monica Frega, Sebastianus H. C. van Gestel, Katrin Linda, Jori van der Raadt, Jason Keller, Jon-Ruben van Rhijn, Dirk Schubert, Cornelis A. Albers, Nael Nadif Kasri

    出版 2017
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  5. 5
    The variant call format and VCFtools

    The variant call format and VCFtools 由 Petr Danecek, Adam Auton, Gonçalo R. Abecasis, Cornelis A. Albers, Eric Banks, Mark A. DePristo, Robert E. Handsaker, Gerton Lunter, Gábor Marth, Stephen T. Sherry, Gil McVean, Richard Durbin

    出版 2011
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  6. 6
    Dynamics of gene silencing during X inactivation using allele-specific RNA-seq

    Dynamics of gene silencing during X inactivation using allele-specific RNA-seq 由 Hendrik Marks, Hindrik H. D. Kerstens, Tahsin Stefan Barakat, Erik Splinter, René A. M. Dirks, Guido van Mierlo, Onkar Joshi, Shuang-Yin Wang, Tomas Babak, Cornelis A. Albers, Tüzer Kalkan, Austin Smith, Alice Jouneau, Wouter de Laat, Joost Gribnau, Hendrik G. Stunnenberg

    出版 2015
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  7. 7
    Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

    Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome 由 Cornelis A. Albers, Ana Cvejic, Rémi Favier, Evelien E. Bouwmans, Marie‐Christine Alessi, Paul Bertone, Gregory E. Jordan, Ross Kettleborough, Graham Kiddle, Myrto Kostadima, Randy J. Read, Botond Sipos, Suthesh Sivapalaratnam, Peter A. Smethurst, Jonathan Stephens, Katrin Voß, Alan T. Nurden, Augusto Rendon, Paquita Nurden, Willem H. Ouwehand

    出版 2011
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  8. 8
    The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes

    The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes 由 Stephen B. Montgomery, David L. Goode, Erika Kvikstad, Cornelis A. Albers, Zhengdong D. Zhang, Xinmeng Jasmine Mu, Guruprasad Ananda, Bryan Howie, Konrad J. Karczewski, Kevin S. Smith, Vanessa Anaya, Rhea Richardson, Joe R. Davis, Daniel G. MacArthur, Arend Sidow, Laurent Duret, Mark Gerstein, Kateryna D. Makova, Jonathan Marchini, Gil McVean, Gerton Lunter

    出版 2013
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  9. 9
    Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

    Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome 由 Cornelis A. Albers, Dirk S. Paul, Harald Schulze, Kathleen Freson, Jonathan Stephens, Peter A. Smethurst, Jennifer D. Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone, Martijn H. Breuning, Najet Debili, Panos Deloukas, Rémi Favier, Janine Fiedler, Catherine M. Hobbs, Ni Huang, Matthew E. Hurles, Graham Kiddle, Ingrid P.C. Krapels, Paquita Nurden, Claudia Ruivenkamp, Jennifer G. Sambrook, Kenneth Smith, Derek L. Stemple, Gabriele Strauß, Chantal Thys, Chris Van Geet, Ruth Newbury‐Ecob, Willem H. Ouwehand, Cédric Ghevaert

    出版 2012
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  10. 10
    SMIM1 underlies the Vel blood group and influences red blood cell traits

    SMIM1 underlies the Vel blood group and influences red blood cell traits 由 Ana Cvejic, Lonneke Haer‐Wigman, Jonathan Stephens, Myrto Kostadima, Peter A. Smethurst, Mattia Frontini, Emile van den Akker, Paul Bertone, Ewa Bielczyk-Maczyńska, Samantha Farrow, Rudolf S.N. Fehrmann, Alan R. Gray, Masja de Haas, Vincent G. Haver, Gregory E. Jordan, Juha Karjalainen, Hindrik H. D. Kerstens, Graham Kiddle, Heather Lloyd-Jones, Malcolm Needs, Joyce Poole, Aïcha Ait Soussan, Augusto Rendon, Klaus Rieneck, Jennifer G. Sambrook, Hein Schepers, Herman H.W. Silljé, Botond Sipos, Dorine W. Swinkels, Asif U. Tamuri, Niek Verweij, Nicholas A. Watkins, Harm-Jan Westra, Derek L. Stemple, Lude Franke, Nicole Soranzo, Hendrik G. Stunnenberg, Nick Goldman, Pim van der Harst, C. Ellen van der Schoot, Willem H. Ouwehand, Cornelis A. Albers

    出版 2013
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  11. 11
    A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

    A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes 由 Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish, Ni Huang, James Morris, Klaudia Walter, Luke Jostins, Lukas Habegger, Joseph K. Pickrell, Stephen B. Montgomery, Cornelis A. Albers, Zhengdong D. Zhang, Donald F. Conrad, Gerton Lunter, Hancheng Zheng, Qasim Ayub, Mark A. DePristo, Eric Banks, Min Hu, Robert E. Handsaker, Jeffrey Rosenfeld, Menachem Fromer, Mike Jin, Xinmeng Jasmine Mu, Ekta Khurana, Kai Ye, Mike Kay, Gary Saunders, Marie‐Marthe Suner, Toby Hunt, If Barnes, Clara Amid, Denise Carvalho‐Silva, Alexandra Bignell, Catherine Snow, Bryndís Yngvadóttir, Suzannah Bumpstead, D.N. Cooper, Yali Xue, Irene Gallego Romero, Jun Wang, Yingrui Li, Richard A. Gibbs, Steven A. McCarroll, Emmanouil T. Dermitzakis, Jonathan K. Pritchard, Jeffrey C. Barrett, Jennifer Harrow, Matthew E. Hurles, Mark Gerstein, Chris Tyler‐Smith

    出版 2012
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  12. 12
    Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

    Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells 由 Lu Chen, Bing Ge, Francesco Paolo Casale, Louella Vasquez, Tony Kwan, Diego Garrido-Martín, Stephen Watt, Ying Yan, Kousik Kundu, Simone Ecker, Avik Datta, David Richardson, Frances Burden, Daniel G. Mead, Alice Mann, José M. Fernández, Sophia Rowlston, Steven P. Wilder, Samantha Farrow, Xiaojian Shao, John Lambourne, Adriana Redensek, Cornelis A. Albers, Vyacheslav Amstislavskiy, Sofie Ashford, Kim Berentsen, Lorenzo Bomba, Guillaume Bourque, David Bujold, Stephan Busche, Maxime Caron, Shu‐Huang Chen, Warren Cheung, Olivier Delaneau, Emmanouil T. Dermitzakis, Heather Elding, Irina Colgiu, Frederik Otzen Bagger, Paul Flicek, Ehsan Habibi, Valentina Iotchkova, Eva M. Janssen‐Megens, Bowon Kim, Hans Lehrach, Ernesto Lowy, Amit Mandoli, Filomena Matarese, Matthew T. Maurano, John Morris, Véra Pancaldi, Farzin Pourfarzad, Karola Rehnström, Augusto Rendon, Thomas S. Risch, Nilofar Sharifi, Marie-Michelle Simon, Marc Sultan, Alfonso Valencia, Klaudia Walter, Shuang-Yin Wang, Mattia Frontini, Stylianos E. Antonarakis, Laura Clarke, Marie‐Laure Yaspo, Stephan Beck, Roderic Guigó, Daniel Rico, Joost H.A. Martens, Willem H. Ouwehand, Taco W. Kuijpers, Dirk S. Paul, Hendrik G. Stunnenberg, Oliver Stegle, Kate Downes, Tomi Pastinen, Nicole Soranzo

    出版 2016
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  13. 13
    Seventy-five genetic loci influencing the human red blood cell

    Seventy-five genetic loci influencing the human red blood cell 由 Pim van der Harst, Weihua Zhang, Irene Mateo Leach, Augusto Rendon, Niek Verweij, Joban Sehmi, Dirk S. Paul, Ulrich Elling, Hooman Allayee, Man Li, Aparna Radhakrishnan, Sian-Tsung Tan, Katrin Voß, Christian X. Weichenberger, Cornelis A. Albers, Abtehale Al-Hussani, Folkert W. Asselbergs, Marina Ciullo, Fabrice Danjou, Christian Dina, Tõnu Esko, David M. Evans, Lude Franke, Martin Gögele, Jaana Hartiala, Micha Hersch, Hilma Hólm, Jouke‐Jan Hottenga, Stavroula Kanoni, Marcus E. Kleber, Vasiliki Lagou, Claudia Langenberg, Lorna M. Lopez, Leo‐Pekka Lyytikäinen, Olle Melander, Federico Murgia, Ilja M. Nolte, Paul F. O’Reilly, Sandosh Padmanabhan, Afshin Parsa, Nicola Pirastu, Eleonora Porcu, Laura Portas, Inga Prokopenko, Janina S. Ried, So-Youn Shin, Clara Sze-Man Tang, Alexander Teumer, Michela Traglia, Sheila Ulivi, Harm-Jan Westra, Jian Yang, Wei Zhao, Franco Anni, Abdel Abdellaoui, Antony Attwood, Beverley Balkau, Stefania Bandinelli, François Bastardot, Beben Benyamin, Bernhard O. Boehm, William Cookson, Debashish Das, Paul I. W. de Bakker, Rudolf A. de Boer, Eco J. C. de Geus, Marleen H. M. de Moor, Maria Dimitriou, Francisco S. Domingues, Angela Döring, Gunnar Engström, Guðmundur I. Eyjólfsson, Luigi Ferrucci, Krista Fischer, Renzo Galanello, Stephen F. Garner, Bernd Genser, Quince Gibson, Giorgia Girotto, Daníel F. Guðbjartsson, Sarah E. Harris, Anna-Liisa Hartikainen, Claire E. Hastie, Bo Hedblad, Thomas Illig, Jennifer Jolley, Mika Kähönen, Ido P. Kema, John P. Kemp, Liming Liang, Heather Lloyd-Jones, Ruth J. F. Loos, Stuart Meacham, Sarah E. Medland, Christa Meisinger, Yasin Memari, Evelin Mihailov, Kathy Ann Miller, Miriam F. Moffatt, Matthias Nauck

    出版 2012
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