Authors: Nielsen, Karsten Bork Sørensen, Suzette Cartegni, Luca Corydon, Thomas Juhl Doktor, Thomas Koed Schroeder, Lisbeth Dahl Reinert, Line Sinnathamby Elpeleg, Orly Krainer, Adrian R Gregersen, Niels Kjems, Jørgen Andresen, Brage Storstein

Citation: Nielsen, Karsten Bork et al., Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer, American journal of human genetics , 80(3), 2007, pp. 416-432

Authors: Kaufmann, Rami Straussberg, Rachel Mandel, Hanna Fattal-Valevski, Aviva Elpeleg, Orly

Citation: Kaufmann, Rami et al., Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 667-670

Authors: Smeitink, Jan A.M. Elpeleg, Orly Antonicka, Anna Diepstra, Heleen Saada, Ann Smits, Paulien Sasarman, Florin Vriend, Gert Jacob-Hirsch, Jasmine Shaag, Avraham Rechavi, Gideon Welling, Brigitte Horst, Jürgen Rodenburg, Richard J. Van den Heuvel, Bert Shoubridge, Eric A.

Citation: Smeitink, Jan A.m et al., Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs, American journal of human genetics , 79(5), 2006, pp. 869-877