Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS.

par Zhihui Sun, Zamia Diaz, Xiaodong Fang, Michael P Hart, Alessandra Chesi, James Shorter, Aaron D Gitler
Publié 2011

Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density

par Alessandra Chesi, Yadav Wagley, Matthew E. Johnson, Elisabetta Manduchi, Chun Su, Sumei Lu, Michelle E. Leonard, Kenyaita M. Hodge, James A. Pippin, Kurt D. Hankenson, Andrew D. Wells, Struan F. A. Grant
Publié 2019

Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells

par Chun Su, Matthew E. Johnson, Annabel Torres, Rajan M. Thomas, Elisabetta Manduchi, Prabhat Sharma, Parul Mehra, Carole Le Coz, Michelle E. Leonard, Sumei Lu, Kenyaita M. Hodge, Alessandra Chesi, James Pippin, Neil Romberg, Struan F. A. Grant, Andrew D. Wells
Publié 2020

Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

par Matthew C. Pahl, Claudia A. Doege, Kenyaita M. Hodge, Sheridan H. Littleton, Michelle E. Leonard, Sumei Lu, Rick Rausch, James A. Pippin, Maria Caterina De Rosa, Alisha Basak, Jonathan P. Bradfield, Reza K. Hammond, Keith Boehm, Robert I. Berkowitz, Chiara Lasconi, Chun Su, Alessandra Chesi, Matthew E. Johnson, Andrew D. Wells, Benjamin F. Voight, Rudolph L. Leibel, Diana L. Cousminer, Struan F. A. Grant
Publié 2021

CYP11B1 variants influence skeletal maturation via alternative splicing

par Olja Grgic, Matthew R. Gazzara, Alessandra Chesi, Carolina Medina-Gomez, Diana L. Cousminer, Jonathan A. Mitchell, Vid Prijatelj, Jard de Vries, Enisa Shevroja, Shana E. McCormack, Heidi J. Kalkwarf, Joan M. Lappe, Vicente Gilsanz, Sharon E. Oberfield, John A. Shepherd, Andrea Kelly, Soroosh Mahboubi, Fabio R. Faucz, Richard A. Feelders, Frank H. de Jong, Andre G. Uitterlinden, Jenny A. Visser, Louis R. Ghanem, Eppo B. Wolvius, Leo J. Hofland, Constantine A. Stratakis, Babette S. Zemel, Yoseph Barash, Struan F. A. Grant, Fernando Rivadeneira
Publié 2021

Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus

par Carolina Medina-Gomez, John P. Kemp, Niki L. Dimou, Eskil Kreiner, Alessandra Chesi, Babette S. Zemel, Klaus Bønnelykke, Cindy G. Boer, Tarunveer S. Ahluwalia, Hans Bisgaard, Evangelos Evangelou, Denise H. M. Heppe, Lynda F. Bonewald, Jeffrey P. Gorski, Mohsen Ghanbari, Serkalem Demissie, Gustavo Duque, Matthew T. Maurano, Douglas P. Kiel, Yi-Hsiang Hsu, Bram C.J. van der Eerden, Cheryl Ackert-Bicknell, Sjur Reppe, Kaare M. Gautvik, Truls Raastad, David Karasik, Jeroen van de Peppel, Vincent W. V. Jaddoe, André G. Uitterlinden, Jonathan H. Tobias, Struan F.A. Grant, Pantelis G. Bagos, David M. Evans, Fernando Rivadeneira
Publié 2017

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

par Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
Publié 2016