Selected Publications

• Bitopertin shows efficacy in patients with erythropoietic protoporphyria: Results from the randomized, double-blind, placebo-controlled AURORA trial. Amy K. Yeung, Herbert L. Bonkovsky, Manisha Balwani, Karl E. Anderson, Cynthia Levy, Manish Thapar, Bruce Wang, Melanie Chin, Will Savage, Robert Desnick, Siobán Keel. Journal of the American Academy of Dermatology
• Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype. Adel Shalata, Ann Saada, Mohammed Mahroum, Yarin Hadid, Chaya Furman, Zaher Eldin Shalata, Robert J. Desnick, Avraham Lorber, Asaad Khoury, Adnan Higazi, Avraham Shaag, Varda Barash, Ronen Spiegel, Euvgeni Vlodavsky, Pierre Rustin, Shmuel Pietrokovski, Irena Manov, Dan Gieger, Galit Tal, Adi Salzberg, Hanna Mandel. Human Genomics
• Rapidly progressive, infantile lysosomal acid lipase deficiency: Prevalence in the Mizrahi Jewish population. Donna L. Bernstein, Inga Peter, Robert J. Desnick. Molecular Genetics and Metabolism