Lotze, Timothy

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics

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TLR7 gain-of-function genetic variation causes human lupus

Brown, G. J., Cañete, P. F., Wang, H., Medhavy, A., Bones, J., Roco, J. A., He, Y., Qin, Y., Cappello, J., Ellyard, J. I., et al. (2022) · Nature

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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

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Therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy: clinical report

Zanelli, S. A., Wusthoff, C. J., Lucke, A. M., Kaufman, D. A., Committee on Fetus and Newborn, Eichenwald, E., Ambalavanan, N., Guillory, C., Hudak, M., Kaufman, D., et al. (2026) · Pediatrics

Neonatal and fetal brain pathologyThermal Regulation in Medicine

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