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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko, M., Yahia, A., Elsayed, L.E., Hamed, A.A., Mohammed, I.N., Elseed, M.A., Hamad, M.H.A., Babai, A.M., Siddig, R.A., Abd Allah, A.S.I., Mohamed, M., El-Amin, M., Esteves, T., Altmüller, J., Toliat, M.R., Thiele, H., Nürnberg, P., Salih, M.A., Ahmed, A.E., Lerche, H. and Stevanin, G.
Annals of Human Genetics 85 (5): 186-195. September 2021

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
Vollger, M.R., Logsdon, G.A., Audano, P.A., Sulovari, A., Porubsky, D., Peluso, P., Wenger, A.M., Concepcion, G.T., Kronenberg, Z.N., Munson, K.M., Baker, C., Sanders, A.D., Spierings, D.C.J., Lansdorp, P.M., Surti, U., Hunkapiller, M.W. and Eichler, E.E.
Annals of Human Genetics 84 (2): 125-140. March 2020

Characterization of polymorphisms in the promoter of the human angiotensin II subtype 1 (AT1) receptor gene.
Erdmann, J., Riedel, K., Rohde, K., Folgmann, I., Wienker, T.F., Fleck, E. and Regitz-Zagrosek, V.
Annals of Human Genetics 63 Part 4 : 369-374. 1 July 1999