Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

par Elisavet Fotiou, Silvia Martin-Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P. Snyder, Stanley G. Rockson, Steve Jeffery, Peter S. Mortimer, Sahar Mansour, Pia Ostergaard
Publié 2019

Application of information theoretic feature selection and machine learning methods for the development of genetic risk prediction models

par Farideh Jalali-najafabadi, Michael Stadler, Nick Dand, Deepak Jadon, Mehreen Soomro, Pauline Ho, Helen Marzo-Ortega, Philip Helliwell, Eleanor Korendowych, Michael A. Simpson, Jonathan Packham, Catherine H. Smith, Jonathan N. Barker, Neil McHugh, Richard B. Warren, Anne Barton, John Bowes, BADBIR Study Group, BSTOP Study Group
Publié 2021

Sequencing of human genomes with nanopore technology

par Rory Bowden, Robert W. Davies, Andreas Heger, Alistair T. Pagnamenta, Mariateresa de Cesare, Laura E. Oikkonen, Duncan Parkes, Colin Freeman, Fatima Dhalla, Smita Y. Patel, Niko Popitsch, Camilla L. C. Ip, Hannah E. Roberts, Silvia Salatino, Helen Lockstone, Gerton Lunter, Jenny C. Taylor, David Buck, Michael A. Simpson, Peter Donnelly
Publié 2019

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

par Christos Petridis, Alexander A. Navarini, Nick Dand, Jake Saklatvala, David Baudry, Michael Duckworth, Michael H. Allen, Charles J. Curtis, Sang Hyuck Lee, A. David Burden, Alison Layton, Veronique Bataille, Andrew E. Pink, The Acne Genetic Study Group, Isabelle Carlavan, Johannes J. Voegel, Timothy D. Spector, Richard C. Trembath, John A. McGrath, Catherine H. Smith, Jonathan N. Barker, Michael A. Simpson
Publié 2018

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

par Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
Publié 2016

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

par Christos Tziotzios, Christos Petridis, Nick Dand, Chrysanthi Ainali, Jake R. Saklatvala, Venu Pullabhatla, Alexandros Onoufriadis, Rashida Pramanik, David Baudry, Sang Hyuck Lee, Kristie Wood, Lu Liu, Seth Seegobin, Gregory A. Michelotti, Su M. Lwin, Evangelos A. A. Christou, Charles J. Curtis, Emanuele de Rinaldis, Alka Saxena, Susan Holmes, Matthew Harries, Ioulios Palamaras, Fiona Cunningham, Gregory Parkins, Manjit Kaur, Paul Farrant, Andrew McDonagh, Andrew Messenger, Jennifer Jones, Victoria Jolliffe, Iaisha Ali, Michael Ardern-Jones, Charles Mitchell, Nigel Burrows, Ravinder Atkar, Cedric Banfield, Anton Alexandroff, Caroline Champagne, Hywel L. Cooper, Sergio Vañó-Galván, Ana Maria Molina-Ruiz, Nerea Ormaechea Perez, Girish K. Patel, Abby Macbeth, Melanie Page, Alyson Bryden, Megan Mowbray, Shyamal Wahie, Keith Armstrong, Nicola Cooke, Mark Goodfield, Irene Man, David de Berker, Giles Dunnill, Anita Takwale, Archana Rao, Tee-Wei Siah, Rodney Sinclair, Martin S. Wade, Ncoza C. Dlova, Jane Setterfield, Fiona Lewis, Kapil Bhargava, Niall Kirkpatrick, Xavier Estivill, Catherine M. Stefanato, Carsten Flohr, Timothy Spector, Fiona M. Watt, Catherine H. Smith, Jonathan N. Barker, David A. Fenton, Michael A. Simpson, John A. McGrath
Publié 2019