日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

BRF2 的双等位基因变异与围产期死亡和颅面畸形有关

Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ásmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson Daníel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

AFF3 不同变异体特异性的病理生理机制对转录组谱的影响各不相同。

Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Jamra, Rami Abou; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E L M; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Falkenberg Smeland, Marie; Butler, Kameryn M; Lyons, Michael J; Carvalho, Claudia M B; Zhang, Chaofan; Lupski, James R; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; Mccormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Ales; Haanpää, Maria K; Pohjola, Pia; Arikka, Harri; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

作者更正:16p11.2拷贝数变异可能与淋巴细胞和中性粒细胞计数改变有关

Giannuzzi, Giuliana; Chatron, Nicolas; Mannik, Katrin; Auwerx, Chiara; Pradervand, Sylvain; Willemin, Gilles; Hoekzema, Kendra; Nuttle, Xander; Chrast, Jacqueline; Sadler, Marie C; Porcu, Eleonora; Herault, Yann; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Eichler, Evan E; Kutalik, Zoltan; Reymond, Alexandre

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

16p11.2拷贝数变异可能与淋巴细胞和中性粒细胞计数改变有关

Giannuzzi, Giuliana; Chatron, Nicolas; Mannik, Katrin; Auwerx, Chiara; Pradervand, Sylvain; Willemin, Gilles; Hoekzema, Kendra; Nuttle, Xander; Chrast, Jacqueline; Sadler, Marie C; Porcu, Eleonora; Herault, Yann; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Eichler, Evan E; Kutalik, Zoltan; Reymond, Alexandre

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

突变特异性的病理生理机制定义了与SATB1功能障碍相关的不同神经发育障碍。

den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J M; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M; Banka, Siddharth; Bena, Frederique S; Ben-Zeev, Bruria; Bonagura, Vincent R; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G; Chew, Hui B; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle C; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B; Parker, Michael; Petersen, Andrea K; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca C; Stegmann, Alexander P A; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-Dos-Santos, Juliana H; Schrier Vergano, Samantha A; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E; Vissers, Lisenka E L M

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

智力发育障碍伴心律失常(IDDCA)综合征中G蛋白信号传导的抑制与心脏功能障碍的关系

De Nittis, Pasquelena; Efthymiou, Stephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Raza Alvi, Javeria; Ur Rahman, Zia; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S; Gleeson, Joseph G; Murphy, David; Galehdari, Hamid; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Lesca, Gaetan; Chatron, Nicolas; Salpietro, Vincenzo; Christoforou, Marilena; Houlden, Henry; Simonds, William F; Pedrazzini, Thierry; Maroofian, Reza; Reymond, Alexandre

GENCODE reference annotation for the human and mouse genomes

人类和小鼠基因组的GENCODE参考注释

Frankish, Adam; Diekhans, Mark; Ferreira, Anne-Maud; Johnson, Rory; Jungreis, Irwin; Loveland, Jane; Mudge, Jonathan M; Sisu, Cristina; Wright, James; Armstrong, Joel; Barnes, If; Berry, Andrew; Bignell, Alexandra; Carbonell Sala, Silvia; Chrast, Jacqueline; Cunningham, Fiona; Di Domenico, Tomás; Donaldson, Sarah; Fiddes, Ian T; García Girón, Carlos; Gonzalez, Jose Manuel; Grego, Tiago; Hardy, Matthew; Hourlier, Thibaut; Hunt, Toby; Izuogu, Osagie G; Lagarde, Julien; Martin, Fergal J; Martínez, Laura; Mohanan, Shamika; Muir, Paul; Navarro, Fabio C P; Parker, Anne; Pei, Baikang; Pozo, Fernando; Ruffier, Magali; Schmitt, Bianca M; Stapleton, Eloise; Suner, Marie-Marthe; Sycheva, Irina; Uszczynska-Ratajczak, Barbara; Xu, Jinuri; Yates, Andrew; Zerbino, Daniel; Zhang, Yan; Aken, Bronwen; Choudhary, Jyoti S; Gerstein, Mark; Guigó, Roderic; Hubbard, Tim J P; Kellis, Manolis; Paten, Benedict; Reymond, Alexandre; Tress, Michael L; Flicek, Paul

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

人类特异性BOLA2基因重复改变16p11.2染色体自闭症患者的铁稳态和贫血易感性

Giannuzzi, Giuliana; Schmidt, Paul J; Porcu, Eleonora; Willemin, Gilles; Munson, Katherine M; Nuttle, Xander; Earl, Rachel; Chrast, Jacqueline; Hoekzema, Kendra; Risso, Davide; Männik, Katrin; De Nittis, Pasquelena; Baratz, Ethan D; Herault, Yann; Gao, Xiang; Philpott, Caroline C; Bernier, Raphael A; Kutalik, Zoltan; Fleming, Mark D; Eichler, Evan E; Reymond, Alexandre

Landscape of transcription in human cells

人类细胞转录图谱

Djebali, Sarah; Davis, Carrie A; Merkel, Angelika; Dobin, Alex; Lassmann, Timo; Mortazavi, Ali; Tanzer, Andrea; Lagarde, Julien; Lin, Wei; Schlesinger, Felix; Xue, Chenghai; Marinov, Georgi K; Khatun, Jainab; Williams, Brian A; Zaleski, Chris; Rozowsky, Joel; Röder, Maik; Kokocinski, Felix; Abdelhamid, Rehab F; Alioto, Tyler; Antoshechkin, Igor; Baer, Michael T; Bar, Nadav S; Batut, Philippe; Bell, Kimberly; Bell, Ian; Chakrabortty, Sudipto; Chen, Xian; Chrast, Jacqueline; Curado, Joao; Derrien, Thomas; Drenkow, Jorg; Dumais, Erica; Dumais, Jacqueline; Duttagupta, Radha; Falconnet, Emilie; Fastuca, Meagan; Fejes-Toth, Kata; Ferreira, Pedro; Foissac, Sylvain; Fullwood, Melissa J; Gao, Hui; Gonzalez, David; Gordon, Assaf; Gunawardena, Harsha; Howald, Cedric; Jha, Sonali; Johnson, Rory; Kapranov, Philipp; King, Brandon; Kingswood, Colin; Luo, Oscar J; Park, Eddie; Persaud, Kimberly; Preall, Jonathan B; Ribeca, Paolo; Risk, Brian; Robyr, Daniel; Sammeth, Michael; Schaffer, Lorian; See, Lei-Hoon; Shahab, Atif; Skancke, Jorgen; Suzuki, Ana Maria; Takahashi, Hazuki; Tilgner, Hagen; Trout, Diane; Walters, Nathalie; Wang, Huaien; Wrobel, John; Yu, Yanbao; Ruan, Xiaoan; Hayashizaki, Yoshihide; Harrow, Jennifer; Gerstein, Mark; Hubbard, Tim; Reymond, Alexandre; Antonarakis, Stylianos E; Hannon, Gregory; Giddings, Morgan C; Ruan, Yijun; Wold, Barbara; Carninci, Piero; Guigó, Roderic; Gingeras, Thomas R

GENCODE: the reference human genome annotation for The ENCODE Project

GENCODE:ENCODE 项目的人类参考基因组注释

Harrow, Jennifer; Frankish, Adam; Gonzalez, Jose M; Tapanari, Electra; Diekhans, Mark; Kokocinski, Felix; Aken, Bronwen L; Barrell, Daniel; Zadissa, Amonida; Searle, Stephen; Barnes, If; Bignell, Alexandra; Boychenko, Veronika; Hunt, Toby; Kay, Mike; Mukherjee, Gaurab; Rajan, Jeena; Despacio-Reyes, Gloria; Saunders, Gary; Steward, Charles; Harte, Rachel; Lin, Michael; Howald, Cédric; Tanzer, Andrea; Derrien, Thomas; Chrast, Jacqueline; Walters, Nathalie; Balasubramanian, Suganthi; Pei, Baikang; Tress, Michael; Rodriguez, Jose Manuel; Ezkurdia, Iakes; van Baren, Jeltje; Brent, Michael; Haussler, David; Kellis, Manolis; Valencia, Alfonso; Reymond, Alexandre; Gerstein, Mark; Guigó, Roderic; Hubbard, Tim J