Selected Publications

• 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
• Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria. Cynthia Levy, Hetanshi Naik, Jessica Overbey, Karli Hedstrom, Kelly Wang, Catherine McDonough, Mary Freeman, Siobán B. Keel, Angelika L. Erwin, Amy K. Dickey, Rebecca K. Leaf, John Quigley, Marshall Mazepa, Bruce Wang, John Phillips, Charles Parker, Brendan McGuire, Mohamed Kazamel, Herbert Bonkovsky, Sean Rudnick, Karl E. Anderson, Akshata Moghe, Manish Thapar, Behnam Saberi, Kristen Wheeden, Robert Desnick, Manisha Balwani. Hepatology Communications
• Noncanonical role of ALAS1 as a heme-independent inhibitor of small RNA-mediated silencing. Seungjae Lee, Sangmi Lee, Robert Desnick, Makiko Yasuda, Eric C. Lai. Science