1. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi‑allelic isoform‑specifc start‑loss mutations of essential genes can cause genetic diseases
Acta Neuropathologica 139, 415(2020). doi:10.1007/s00401-019-02109-6
Elena Perenthaler, Anita Nikoncuk, Soheil Yousef, Woutje M. Berdowski, Maysoon Alsagob, Ivan Capo, Herma C. van der Linde, Paul van
den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita
Medici‑van den Herik, Marjon van Slegtenhorst, Lauren Brick, Mariya Kozenko, Jennefer N. Kohler, Jonathan A. Bernstein, Kristin G.
Monaghan, Amber Begtrup, Rebecca Torene, Amna Al Futaisi, Fathiya Al Murshedi, Renjith Mani, Faisal Al Azri…
2. A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer
3.Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations