Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne O’Donnell‐Luria, Kirsty McWalter, Victor Luria et al.|The American Journal of Human Genetics|2019Cited by 99
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentIltaf Ahmed, Rami Abou Jamra, Rebecca Buchert et al.|Human Molecular Genetics|2015Cited by 58
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
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variantMayada Helal, Reza Maroofian, Neda Mazaheri et al.|Neurological Sciences|2018Cited by 32
Genetic basis of neurodevelopmental disorders in 103 Jordanian familiesTawfiq Froukh, Rebecca Buchert, Omar Nafie et al.|Clinical Genetics|2020Cited by 30