- Nil Z*, Deshwar AR*, Huang Y, Barish S, Zhang X, Choufani S, Stabej PLQ, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vollo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M, Undiagnosed Disease Network, Wangler MF, Weksberg R, Yamamoto S, Costain G#, Bellen HJ# (2023) Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. American Journal of Human Genetics :in press. *equal contribution, # corresponding authors
- Goodman LD, Cope H, Nil Z, Ravenscroft, TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogne B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, UDN Consortia, Wangler MF, Yamamoto S, Bellen HJ*, Tan QKG*
(2021)
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. American Journal of Human Genetics DOI:10.1016/j.ajhg.2021.06.019. *equal contribution [Abstract]
- Nil Z, Hervas R, Gerbich T, Leal P, Yu Z, Saraf A, Sardiu M, Lange JJ, Yi K, Unruh J, Slaughter B, Si K. (2019) Amyloid-like Assembly Activates a Phosphatase in the Developing Drosophila Embryo. Cell 178:1403-1420. [Abstract]
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