Deep sequencing reveals 50 novel genes for recessive cognitive disordersHossein Najmabadi, Hans‐Hilger Ropers, Stefan A. Haas et al.|Nature|2011Cited by 987
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A. Husain, Tobias B. Haack, Mona Grimmel et al.|The American Journal of Human Genetics|2020Cited by 54
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Marta Rusmini, Reza Maroofian et al.|Brain|2021Cited by 51
Bi-allelic variants in <i>CHKA</i> cause a neurodevelopmental disorder with epilepsy and microcephalyChiara Klöckner, Konrad Platzer, J. Pedro Fernández-Murray et al.|Brain|2022Cited by 14