Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G. Ghosh, Joseph G. Gleeson, Kerstin Becker et al.|The American Journal of Human Genetics|2018Cited by 89
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defectsGöknur Haliloğlu, Sebahattin Çırak, Susanne Motameny et al.|Journal of Human Genetics|2016Cited by 79
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G. Ghosh, Joseph G. Gleeson, Kerstin Becker et al.|The American Journal of Human Genetics|2018Cited by 10