Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovacs-Nagy R, Gusic M, Graf E, Laugwitz L, Roblitz M, Wroblewski A, Hartmann H, Das AM, Bultmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Ploski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Am J Hum Genet 103:817-825 (2018)
DOI:10.1016/j.ajhg.2018.10.005

Hanzlikova H, Prokhorova E, Krejcikova K, Cihlarova Z, Kalasova I, Kubovciak J, Sachova J, Hailstone R, Brazina J, Ghosh S, Cirak S, Gleeson JG, Ahel I, Caldecott KW

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair.

Nat Commun 11:3391 (2020)
DOI:10.1038/s41467-020-17069-9