Polygenic score development in the era of large-scale biobanks by Vincent Plagnol

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Possible ancestral structure in human populations. by Vincent Plagnol, Jeffrey D Wall

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Regulation of otic neurosensory specification by Notch and Wnt signalling: insights from RNA-seq screenings in the embryonic chicken inner ear by Magdalena Żak, Thea P. Støle, Vincent Plagnol, Nicolas Daudet

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A method to address differential bias in genotyping in large-scale association studies. by Vincent Plagnol, Jason D Cooper, John A Todd, David G Clayton

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Quantitative analysis of cryptic splicing associated with TDP-43 depletion by Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M. Isaacs, Vincent Plagnol

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A Comparison of Low Read Depth QuantSeq 3′ Sequencing to Total RNA-Seq in FUS Mutant Mice by Seth Jarvis, Seth Jarvis, Nicol Birsa, Nicol Birsa, Maria Secrier, Pietro Fratta, Vincent Plagnol

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Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses. by Vincent Plagnol, Elif Uz, Chris Wallace, Helen Stevens, David Clayton, Tayfun Ozcelik, John A Todd

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Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. by Claudia Giambartolomei, Damjan Vukcevic, Eric E Schadt, Lude Franke, Aroon D Hingorani, Chris Wallace, Vincent Plagnol

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Exome sequencing identifies MPL as a causative gene in familial aplastic anemia by Amanda J. Walne, Arran Dokal, Vincent Plagnol, Richard Beswick, Michael Kirwan, Josu de la Fuente, Tom Vulliamy, Inderjeet Dokal

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Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration by Sarah Mizielinska, Charlotte E. Ridler, Rubika Balendra, Annora Thoeng, Nathan S. Woodling, Friedrich A. Grässer, Vincent Plagnol, Tammaryn Lashley, Linda Partridge, Adrian M. Isaacs

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A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes. by Manuela Zanda, Suna Onengut-Gumuscu, Neil Walker, Corina Shtir, Daniel Gallo, Chris Wallace, Deborah Smyth, John A Todd, Matthew E Hurles, Vincent Plagnol, Stephen S Rich

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Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease. by Katrina Soderquest, Arnulf Hertweck, Claudia Giambartolomei, Claudia Giambartolomei, Stephen Henderson, Rami Mohamed, Rimma Goldberg, Esperanza Perucha, Lude Franke, Javier Herrero, Vincent Plagnol, Richard G Jenner, Graham M Lord

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Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up. by Vanisha Mistry, Nicholas A Bockett, Adam P Levine, Muddassar M Mirza, Karen A Hunt, Paul J Ciclitira, Holger Hummerich, Susan L Neuhausen, Michael A Simpson, Vincent Plagnol, David A van Heel

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Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection by Davide Eletto, Siobhan O. Burns, Ivan Angulo, Vincent Plagnol, Kimberly C. Gilmour, Frances Henriquez, James Curtis, Miguel Gaspar, Karolin Nowak, Vanessa Daza-Cajigal, Dinakantha Kumararatne, Rainer Doffinger, Adrian J. Thrasher, Sergey Nejentsev

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A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome by Elena G. Bochukova, Katherine Lawler, Sophie Croizier, Julia M. Keogh, Nisha Patel, Garth Strohbehn, Kitty K. Lo, Jack Humphrey, Anita Hokken-Koelega, Layla Damen, Stephany Donze, Sebastien G. Bouret, Vincent Plagnol, I. Sadaf Farooqi

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Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. by Vincent Plagnol, Joanna M M Howson, Deborah J Smyth, Neil Walker, Jason P Hafler, Chris Wallace, Helen Stevens, Laura Jackson, Matthew J Simmonds, Type 1 Diabetes Genetics Consortium, Polly J Bingley, Stephen C Gough, John A Todd

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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis by Amanda J. Walne, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Vincent Plagnol, Canan Albayrak, Davut Albayrak, Sara Sebnem Kilic, Turkan Patıroglu, Haluk Akar, Keith Godfrey, Tina Carter, Makia Marafie, Ajay Vora, Mikael Sundin, Thomas Vulliamy, Hemanth Tummala, Inderjeet Dokal

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Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa by João Farela Neves, João Farela Neves, Rainer Doffinger, Gabriela Barcena-Morales, Catarina Martins, Olivier Papapietro, Vincent Plagnol, James Curtis, Marta Martins, Dinakantha Kumararatne, Ana Isabel Cordeiro, Conceição Neves, Luis Miguel Borrego, Luis Miguel Borrego, Matilda Katan, Sergey Nejentsev, Sergey Nejentsev

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The pattern of polymorphism in Arabidopsis thaliana. by Magnus Nordborg, Tina T Hu, Yoko Ishino, Jinal Jhaveri, Christopher Toomajian, Honggang Zheng, Erica Bakker, Peter Calabrese, Jean Gladstone, Rana Goyal, Mattias Jakobsson, Sung Kim, Yuri Morozov, Badri Padhukasahasram, Vincent Plagnol, Noah A Rosenberg, Chitiksha Shah, Jeffrey D Wall, Jue Wang, Keyan Zhao, Theodore Kalbfleisch, Vincent Schulz, Martin Kreitman, Joy Bergelson

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Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling. by Vincent Plagnol, Samuel Woodhouse, Karen Howarth, Stefanie Lensing, Matt Smith, Michael Epstein, Mikidache Madi, Sarah Smalley, Catherine Leroy, Jonathan Hinton, Frank de Kievit, Esther Musgrave-Brown, Colin Herd, Katherine Baker-Neblett, Will Brennan, Peter Dimitrov, Nathan Campbell, Clive Morris, Nitzan Rosenfeld, James Clark, Davina Gale, Jamie Platt, John Calaway, Greg Jones, Tim Forshew

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