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Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.

Bauer P, Kandaswamy KK, Weiss MER, Paknia O, Werber M, Bertoli-Avella AM, Yüksel Z, Bochinska M, Oprea GE, Kishore S, Weckesser V, Karges E, Rolfs A.

Genet Med. 2018 Aug 13. doi: 10.1038/s41436-018-0016-6. [Epub ahead of print]


A comprehensive global genotype-phenotype database for rare diseases.

Trujillano D, Oprea GE, Schmitz Y, Bertoli-Avella AM, Abou Jamra R, Rolfs A.

Mol Genet Genomic Med. 2016 Nov 23;5(1):66-75. doi: 10.1002/mgg3.262. eCollection 2017 Jan.


Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B.

Science. 2008 Apr 25;320(5875):524-7. doi: 10.1126/science.1155085.

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