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Publications

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

Muona M, Ishimura R, Laari A, et al. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. Am J Hum Genet. 2016;99(3):683-94. doi:10.1016/j.ajhg.2016.06.020

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.

Guo MH, Dauber A, Lippincott MF, Chan YM, Salem RM, Hirschhorn JN. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am J Hum Genet. 2016;99(3):527-39. doi:10.1016/j.ajhg.2016.06.031

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Kim JH, Shinde DN, Reijnders MRF, et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016;99(3):711-9. doi:10.1016/j.ajhg.2016.06.029

Correlating Drug-Target Kinetics and In vivo Pharmacodynamics: Long Residence Time Inhibitors of the FabI Enoyl-ACP Reductase.

Daryaee F, Chang A, Schiebel J, et al. Correlating Drug-Target Kinetics and In vivo Pharmacodynamics: Long Residence Time Inhibitors of the FabI Enoyl-ACP Reductase. Chem Sci. 2016;7(9):5945-5954. doi:10.1039/C6SC01000H

Massive contribution of transposable elements to mammalian regulatory sequences.

Rayan NA, Del Rosario RCH, Prabhakar S. Massive contribution of transposable elements to mammalian regulatory sequences. Semin Cell Dev Biol. 2016;57:51-6. doi:10.1016/j.semcdb.2016.05.004

Challenging Roadblocks to Cancer Cure.

Loda M. Challenging Roadblocks to Cancer Cure. Cancer Res. 2016;76(17):4924-30. doi:10.1158/0008-5472.CAN-16-1443

Multifaceted biological insights from a draft genome sequence of the tobacco hornworm moth, Manduca sexta.

Kanost MR, Arrese EL, Cao X, et al. Multifaceted biological insights from a draft genome sequence of the tobacco hornworm moth, Manduca sexta. Insect Biochem Mol Biol. 2016;76:118-47. doi:10.1016/j.ibmb.2016.07.005

Indels, structural variation, and recombination drive genomic diversity in Plasmodium falciparum.

Miles A, Iqbal Z, Vauterin P, et al. Indels, structural variation, and recombination drive genomic diversity in Plasmodium falciparum. Genome Res. 2016;26(9):1288-99. doi:10.1101/gr.203711.115

Recent Advances in Defining the Genetic Basis of Rheumatoid Arthritis.

Terao C, Raychaudhuri S, Gregersen PK. Recent Advances in Defining the Genetic Basis of Rheumatoid Arthritis. Annu Rev Genomics Hum Genet. 2016;17:273-301. doi:10.1146/annurev-genom-090314-045919

Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.

Wagner EK, Raychaudhuri S, Villalonga MB, et al. Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD. Sci Rep. 2016;6:31531. doi:10.1038/srep31531