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Haplotype-resolved diverse human genomes and integrated analysis of structural variation 期刊论文
Science, 2021
作者:  Peter Ebert;  Peter A. Audano;  Qihui Zhu;  Bernardo Rodriguez-Martin;  David Porubsky;  Marc Jan Bonder;  Arvis Sulovari;  Jana Ebler;  Weichen Zhou;  Rebecca Serra Mari;  Feyza Yilmaz;  Xuefang Zhao;  PingHsun Hsieh;  Joyce Lee;  Sushant Kumar;  Jiadong Lin;  Tobias Rausch;  Yu Chen;  Jingwen Ren;  Martin Santamarina;  Wolfram Höps;  Hufsah Ashraf;  Nelson T. Chuang;  Xiaofei Yang;  Katherine M. Munson;  Alexandra P. Lewis;  Susan Fairley;  Luke J. Tallon;  Wayne E. Clarke;  Anna O. Basile;  Marta Byrska-Bishop;  André Corvelo;  Uday S. Evani;  Tsung-Yu Lu;  Mark J. P. Chaisson;  Junjie Chen;  Chong Li;  Harrison Brand;  Aaron M. Wenger;  Maryam Ghareghani;  William T. Harvey;  Benjamin Raeder;  Patrick Hasenfeld;  Allison A. Regier;  Haley J. Abel;  Ira M. Hall;  Paul Flicek;  Oliver Stegle;  Mark B. Gerstein;  Jose M. C. Tubio;  Zepeng Mu;  Yang I. Li;  Xinghua Shi;  Alex R. Hastie;  Kai Ye;  Zechen Chong;  Ashley D. Sanders;  Michael C. Zody;  Michael E. Talkowski;  Ryan E. Mills;  Scott E. Devine;  Charles Lee;  Jan O. Korbel;  Tobias Marschall;  Evan E. Eichler
收藏  |  浏览/下载：24/0  |  提交时间：2021/04/06
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 期刊论文
NATURE COMMUNICATIONS, 2019, 10
作者:  Corbett, Mark A.;  Kroes, Thessa;  Veneziano, Liana;  Bennett, Mark F.;  Florian, Rahel;  Schneider, Amy L.;  Coppola, Antonietta;  Licchetta, Laura;  Franceschetti, Silvana;  Suppa, Antonio;  Wenger, Aaron;  Mei, Davide;  Pendziwiat, Manuela;  Kaya, Sabine;  Delledonne, Massimo;  Straussberg, Rachel;  Xumerle, Luciano;  Regan, Brigid;  Crompton, Douglas;  van Rootselaar, Anne-Fleur;  Correll, Anthony;  Catford, Rachael;  Bisulli, Francesca;  Chakraborty, Shreyasee;  Baldassari, Sara;  Tinuper, Paolo;  Barton, Kirston;  Carswell, Shaun;  Smith, Martin;  Berardelli, Alfredo;  Carroll, Renee;  Gardner, Alison;  Friend, Kathryn L.;  Blatt, Ilan;  Iacomino, Michele;  Di Bonaventura, Carlo;  Striano, Salvatore;  Buratti, Julien;  Keren, Boris;  Nava, Caroline;  Forlani, Sylvie;  Rudolf, Gabrielle;  Hirsch, Edouard;  Leguern, Eric;  Labauge, Pierre;  Balestrini, Simona;  Sander, Josemir W.;  Afawi, Zaid;  Helbig, Ingo;  Ishiura, Hiroyuki;  Tsuji, Shoji;  Sisodiya, Sanjay M.;  Casari, Giorgio;  Sadleir, Lynette G.;  van Coller, Riaan;  Tijssen, Marina A. J.;  Klein, Karl Martin;  van den Maagdenberg, Arn M. J. M.;  Zara, Federico;  Guerrini, Renzo;  Berkovic, Samuel F.;  Pippucci, Tommaso;  Canafoglia, Laura;  Bahlo, Melanie;  Striano, Pasquale;  Scheffer, Ingrid E.;  Brancati, Francesco;  Depienne, Christel;  Gecz, Jozef
收藏  |  浏览/下载：10/0  |  提交时间：2019/11/27