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The GENESIS Database and Tools: A Decade of Discovery in Mendelian Genomics

Matt C. Danzi,Eric Powell,Adriana P. Rebelo,Maike F. Dohrn,Danique Beijer,Sarah Fazal,Isaac R. L. Xu,Jessica Medina,Sitong Chen, Yeisha Arcia de Jesus, Jacquelyn Schatzman,Ray E. Hershberger,Mario Saporta,Jonathan Baets,Marni Falk,David N. Herrmann,Steven S. Scherer,Mary M. Reilly,Andrea Cortese,Wilson Marques, Mario R. Carnejo-Olivas,Oranee Sanmaneechai,Marina L. Kennerson,Albena Jordanova, Thiago Y. T. Silva,Jose Luiz Pedroso,Luca Schierbaum,Darius Ebrahimi-Fakhari,Stojan Peric,Yi-Chung Lee,Matthis Synofzik,Mustafa Tekin,Gianina Ravenscroft, Mike Shy,Nazli Basak,Rebecca Schule,Stephan Zuchner

EXPERIMENTAL NEUROLOGY（2024）

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关键词
Belgium,Data sharing,Monogenic diseases,Data aggregation,Genome sequencing,Neuromuscular diseases
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