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C

Charlotte M. Fare

University of Pennsylvania
H指数:15
被引数:1,525

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
NATURE COMMUNICATIONS
IF15.7
2022-04-2824
OAAI
Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
JCI INSIGHT
IF6.1
2021-07-2243
OAAI
Beijer, Danique; Kim, Hong Joo; Guo, Lin; O'Donovan, Kevin; Mademan, Ines; Deconinck, Tine; Van Schil, Kristof; Fare, Charlotte M.; Drake, Lauren E.; Ford, Alice F.; Kochanski, Andrzej; Kabzinska, Dagmara; Dubuisson, Nicolas; Van den Bergh, Peter; Voermans, Nicol C.; Lemmers, Richard J. L. F.; van der Maarel, Silvere M.; Bonner, Devon; Sampson, Jacinda B.; Wheeler, Matthew T.; Mehrabyan, Anahit; Palmer, Steven; De Jonghe, Peter; Shorter, James; Taylor, J. Paul; Baets, Jonathan

研究方向

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J
James Shorter
H 指数:80论文数:286被引数:2.6万
S
Sua Myong
H 指数:48论文数:195被引数:9,955
郭
郭林
H 指数:30论文数:100被引数:5,708
K
Kevin Rhine
H 指数:11论文数:30被引数:673
S
Sophie Skanchy
H 指数:5论文数:11被引数:239
H
Hong Joo Kim
H 指数:32论文数:68被引数:1.2万
J
J. Paul Taylor
H 指数:93论文数:290被引数:6.0万
A
Alice F. Ford
H 指数:7论文数:20被引数:1,676
C
Cinzia Bertolin
H 指数:20论文数:55被引数:2,845
E
Elena Pegoraro
H 指数:73论文数:490被引数:1.5万