Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G. Ghosh, Joseph G. Gleeson, Sebahattin Çırak et al.|The American Journal of Human Genetics|2018Cited by 89
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G. Ghosh, Joseph G. Gleeson, Sangmoon Lee et al.|Genetics in Medicine|2020Cited by 37
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G. Ghosh, Joseph G. Gleeson, Laila Selim et al.|European Journal of Human Genetics|2020Cited by 18
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G. Ghosh, Joseph G. Gleeson, Gabriel Haddad et al.|The American Journal of Human Genetics|2018Cited by 10