Resultados da pesquisa - Klaudia Walter

Refinar resultados
  1. 1
    The impact of rare and low-frequency genetic variants in common disease

    The impact of rare and low-frequency genetic variants in common disease Por Lorenzo Bomba, Klaudia Walter, Nicole Soranzo

    Publicado em 2017
    Obter o texto integral
    Revisão
    Adic. favoritos
    Na minha lista:
  2. 2
    Parallel evolution of conserved non-coding elements that target a common set of developmental regulatory genes from worms to humans.

    Parallel evolution of conserved non-coding elements that target a common set of developmental regulatory genes from worms to humans. Por Tanya Vavouri, Klaudia Walter, Walter R. Gilks, Ben Lehner, Greg Elgar

    Publicado em 2007
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  3. 3
    Estimating Genome‐Wide Significance for Whole‐Genome Sequencing Studies

    Estimating Genome‐Wide Significance for Whole‐Genome Sequencing Studies Por Changjiang Xu, Ioanna Tachmazidou, Klaudia Walter, Antonio Ciampi, Eleftheria Zeggini, Celia M.T. Greenwood

    Publicado em 2014
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  4. 4
    GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

    GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals Por Valentina Iotchkova, Graham R. S. Ritchie, Matthias Geihs, Sandro Morganella, Josine L. Min, Klaudia Walter, Nicholas J. Timpson, Ian Dunham, Ewan Birney, Nicole Soranzo

    Publicado em 2019
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  5. 5
    Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

    Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom Por Himanshu Chheda, Priit Palta, Matti Pirinen, Shane McCarthy, Klaudia Walter, Seppo Koskinen, Veikko Salomaa, Mark J. Daly, Richard Durbin, Aarno Palotie, Tero Aittokallio, Samuli Ripatti

    Publicado em 2017
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  6. 6
    Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity

    Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity Por Teng Hiang Heng, Klaudia Walter, Qin Huang, Juha Karjalainen, Mark J. Daly, Henrike Heyne, Daniel Malawsky, Georgios Kalantzis, Sarah Finer, David A. van Heel, Hilary C. Martin

    Publicado em 2025
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  7. 7
    Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites

    Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites Por Lorenzo Bomba, Klaudia Walter, Qi Guo, Praveen Surendran, Kousik Kundu, Suraj S. Nongmaithem, Mohd Anisul Karim, Isobel D. Stewart, Claudia Langenberg, John Danesh, Emanuele Di Angelantonio, David J. Roberts, Willem H. Ouwehand, Ian Dunham, Adam S. Butterworth, Nicole Soranzo

    Publicado em 2022
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  8. 8
    Increases in Human T Helper 2 Cytokine Responses to<i>Schistosoma mansoni</i>Worm and Worm‐Tegument Antigens Are Induced by Treatment with Praziquantel

    Increases in Human T Helper 2 Cytokine Responses to<i>Schistosoma mansoni</i>Worm and Worm‐Tegument Antigens Are Induced by Treatment with Praziquantel Por Sarah Joseph, Frances M. Jones, Klaudia Walter, Anthony J. C. Fulford, Gachuhi Kimani, Joseph K. Mwatha, Timothy Kamau, Henry C. Kariuki, Francis Kazibwe, Edridah M. Tukahebwa, Narcis B. Kabatereine, John H. Ouma, Birgitte J. Vennervald, David W. Dunne

    Publicado em 2004
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  9. 9
    Inherited polygenic effects on common hematological traits influence clonal selection on JAK2V617F and the development of myeloproliferative neoplasms

    Inherited polygenic effects on common hematological traits influence clonal selection on JAK2V617F and the development of myeloproliferative neoplasms Por Jing Guo, Klaudia Walter, Pedro M. Quirós, Muxin Gu, E. Joanna Baxter, John Danesh, Emanuele Di Angelantonio, David J. Roberts, Paola Guglielmelli, Claire Harrison, Anna L. Godfrey, Anthony R. Green, George S. Vassiliou, Dragana Vuckovic, Jyoti Nangalia, Nicole Soranzo

    Publicado em 2024
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  10. 10
    Highly Conserved Non-Coding Sequences Are Associated with Vertebrate Development

    Highly Conserved Non-Coding Sequences Are Associated with Vertebrate Development Por Adam Woolfe, Martin Goodson, Debbie K. Goode, Phil Snell, Gayle K. McEwen, Tanya Vavouri, Sarah Smith, Phil North, Heather Callaway, Krys Kelly, Klaudia Walter, Irina Abnizova, Walter R. Gilks, Yvonne J. K. Edwards, Julie E. Cooke, Greg Elgar

    Publicado em 2004
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  11. 11
    Effects of adiposity on the human plasma proteome: observational and Mendelian randomisation estimates

    Effects of adiposity on the human plasma proteome: observational and Mendelian randomisation estimates Por Lucy J. Goudswaard, Joshua A. Bell, David A. Hughes, Laura J. Corbin, Klaudia Walter, George Davey Smith, Nicole Soranzo, John Danesh, Emanuele Di Angelantonio, Willem H. Ouwehand, Nicholas A. Watkins, David J. Roberts, Adam S. Butterworth, Ingeborg Hers, Nicholas J. Timpson

    Publicado em 2021
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  12. 12
    Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

    Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease Por Stephen M. Watt, Louella Vasquez, Klaudia Walter, Alice Mann, Kousik Kundu, Lu Chen, Ying Sims, Simone Ecker, Frances Burden, Samantha Farrow, Ben W. Farr, Valentina Iotchkova, Heather Elding, Daniel G. Mead, Manuel Tardáguila, Hannes Ponstingl, David Richardson, Avik Datta, Paul Flicek, Laura Clarke, Kate Downes, Tomi Pastinen, Peter Fraser, Mattia Frontini, Biola M. Javierre, Mikhail Spivakov, Nicole Soranzo

    Publicado em 2021
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  13. 13
    Origins and functional impact of copy number variation in the human genome

    Origins and functional impact of copy number variation in the human genome Por Donald F. Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Ömer Gökçümen, Goo Jun, Jan Aerts, T. Daniel Andrews, C. Barnes, Peter J. Campbell, Tomas Fitzgerald, Min Hu, Chun Hwa Ihm, Kati Kristiansson, Daniel G. MacArthur, Jeffrey R. MacDonald, Ifejinelo Onyiah, Andy Wing Chun Pang, Samuel C. Robson, Kathy Stirrups, Armand Valsesia, Klaudia Walter, John Wei, Chris Tyler‐Smith, Nigel P. Carter, Charles Lee, Stephen W. Scherer, Matthew E. Hurles

    Publicado em 2009
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  14. 14
    Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases

    Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases Por Na Cai, Aurora Gómez-Durán, Ekaterina Yonova‐Doing, Kousik Kundu, A I Burgess, Zoe Golder, Claudia Calabrese, Marc Jan Bonder, Marta Camacho, Rachael A. Lawson, Lixin Li, Caroline H. Williams‐Gray, Emanuele Di Angelantonio, David J. Roberts, Nick Watkins, Willem H. Ouwehand, Adam S. Butterworth, Isobel D. Stewart, Maik Pietzner, Nicholas J. Wareham, Claudia Langenberg, John Danesh, Klaudia Walter, Peter M. Rothwell, Joanna M. M. Howson, Oliver Stegle, Patrick F. Chinnery, Nicole Soranzo

    Publicado em 2021
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  15. 15
    An Organismal CNV Mutator Phenotype Restricted to Early Human Development

    An Organismal CNV Mutator Phenotype Restricted to Early Human Development Por Pengfei Liu, Bo Yuan, Claudia M.B. Carvalho, Arthur Wüster, Klaudia Walter, Ling Zhang, Tomasz Gambin, Zechen Chong, Ian M. Campbell, Zeynep Coban‐Akdemir, Violet Gelowani, Karin Writzl, Carlos A. Bacino, Sarah Lindsay, Marjorie Withers, Claudia Gonzaga‐Jauregui, Joanna Wiszniewska, Jennifer Scull, Paweł Stankiewicz, Shalini N. Jhangiani, Donna M. Muzny, Feng Zhang, Ken Chen, Richard A. Gibbs, Bernd Rautenstrauß, Sau Wai Cheung, Janice Smith, Amy M. Breman, Chad A. Shaw, Ankita Patel, Matthew E. Hurles, James R. Lupski

    Publicado em 2017
    Obter o texto integral Obter o texto integral
    Carta
    Adic. favoritos
    Na minha lista:
  16. 16
    A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

    A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology Por Parsa Akbari, Dragana Vuckovic, Luca Stefanucci, Tao Jiang, Kousik Kundu, Roman Kreuzhuber, Erik L. Bao, Janine Collins, Kate Downes, Luigi Grassi, José A. Guerrero, Stephen Kaptoge, Julian C. Knight, Stuart Meacham, Jennifer Sambrook, Denis Seyres, Oliver Stegle, Jeffrey M. Verboon, Klaudia Walter, Nicholas A. Watkins, John Danesh, David J. Roberts, Emanuele Di Angelantonio, Vijay G. Sankaran, Mattia Frontini, Stephen Burgess, Taco W. Kuijpers, James E. Peters, Adam S. Butterworth, Willem H. Ouwehand, Nicole Soranzo, William J. Astle

    Publicado em 2023
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  17. 17
    An atlas of genetic influences on human blood metabolites

    An atlas of genetic influences on human blood metabolites Por So–Youn Shin, Eric B. Fauman, Ann-Kristin Petersen, Jan Krumsiek, Rita Santos, Jie Huang, Matthias Arnold, Idil Erte, Vincenzo Forgetta, Tsun-Po Yang, Klaudia Walter, Cristina Menni, Lu Chen, Louella Vasquez, Ana M. Valdes, Craig Hyde, Vicky Wang, Daniel Ziemek, Phoebe M. Roberts, Xi Li, Elin Grundberg, Melanie Waldenberger, J. Brent Richards, Robert P. Mohney, Michael V. Milburn, Sally John, Jeff K. Trimmer, Fabian J. Theis, John P. Overington, Karsten Suhre, M. Julia Brosnan, Christian Gieger, Gabi Kastenmüller, Tim D. Spector, Nicole Soranzo

    Publicado em 2014
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  18. 18
    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 Por 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

    Publicado em 2012
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  19. 19
    Mapping copy number variation by population-scale genome sequencing

    Mapping copy number variation by population-scale genome sequencing Por Ryan E. Mills, Klaudia Walter, Chip Stewart, Robert E. Handsaker, Ken Chen, Can Alkan, Alexej Abyzov, Seungtai Yoon, Kai Ye, R. Keira Cheetham, Asif Chinwalla, Donald F. Conrad, Yutao Fu, Fabian Grubert, Iman Hajirasouliha, Fereydoun Hormozdiari, Lilia M. Iakoucheva, Zamin Iqbal, Shuli Kang, Jeffrey M. Kidd, Miriam K. Konkel, Joshua M. Korn, Ekta Khurana, Deniz Kural, Hugo Y. K. Lam, Jing Leng, Ruiqiang Li, Yingrui Li, Chang‐Yun Lin, Ruibang Luo, Xinmeng Jasmine Mu, James Nemesh, Heather E. Peckham, Tobias Rausch, Aylwyn Scally, Xinghua Shi, Michael P. Strömberg, Adrian M. Stütz, Alexander E. Urban, Jerilyn A. Walker, Jiantao Wu, Goo Jun, Zhengdong D. Zhang, Mark A. Batzer, Li Ding, Gábor Marth, Gil McVean, Jonathan Sebat, M Snyder, Jun Wang, Kenny Ye, Evan E. Eichler, Mark Gerstein, Matthew E. Hurles, Charles Lee, Steven A. McCarroll, Jan O. Korbel

    Publicado em 2011
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  20. 20
    Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

    Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis Por Linda M. Polfus, Rajiv K. Khajuria, Ursula M. Schick, Nathan Pankratz, Raha Pazoki, Jennifer A. Brody, Ming‐Huei Chen, Paul L. Auer, James S. Floyd, Jie Huang, Leslie A. Lange, Frank J.A. van Rooij, Richard A. Gibbs, Ginger Metcalf, Donna M. Muzny, Narayanan Veeraraghavan, Klaudia Walter, Lu Chen, Lisa R. Yanek, Lewis C. Becker, Gina M. Peloso, Aoi Wakabayashi, Mart Kals, Andres Metspalu, Tõnu Esko, Keolu Fox, Robert B. Wallace, Nora Franceschini, Nena Matijevic, Kenneth Rice, Traci M. Bartz, Leo‐Pekka Lyytikäinen, Mika Kähönen, Terho Lehtimäki, Olli Raitakari, Ruifang Li‐Gao, Dennis O. Mook‐Kanamori, Guillaume Lettre, Cornelia M. van Duijn, Oscar H. Franco, Stephen S. Rich, Fernando Rivadeneira, Albert Hofman, André G. Uitterlinden, James Wilson, Bruce M. Psaty, Nicole Soranzo, Abbas Dehghan, Eric Boerwinkle, Xiaoling Zhang, Andrew D. Johnson, Christopher J. O’Donnell, Jill M. Johnsen, Alexander P. Reiner, Santhi K. Ganesh, Vijay G. Sankaran

    Publicado em 2016
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:

Ferramentas de pesquisa: