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Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

Srivastava S, Gubbels CS, Dies K, Fulton A, Yu T, Sahin M. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017;32(9):840-845. doi:10.1177/0883073817711527

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.

Dvela-Levitt M, Kost-Alimova M, Emani M, et al. Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy. Cell. 2019;178(3):521-535.e23. doi:10.1016/j.cell.2019.07.002

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.

Schilit SLP, Menon S, Friedrich C, et al. SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. Am J Hum Genet. 2020;106(1):41-57. doi:10.1016/j.ajhg.2019.11.013

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J Pediatr. 2013;162(1):202-4.e1. doi:10.1016/j.jpeds.2012.07.055

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Abreu AP, Dauber A, Macedo DB, et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013;368(26):2467-75. doi:10.1056/NEJMoa1302160

In vivo gene editing in dystrophic mouse muscle and muscle stem cells.

Tabebordbar M, Zhu K, Cheng JKW, et al. In vivo gene editing in dystrophic mouse muscle and muscle stem cells. Science. 2016;351(6271):407-11. doi:10.1126/science.aad5177