Browse by Journal Title

2021

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

2020

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

1999

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