Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Stylianos E. Antonarakis, Mohammad Doosti et al.|European Journal of Human Genetics|2018Cited by 69
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline Dias, Reza Maroofian, James R. Lupski et al.|The American Journal of Human Genetics|2019Cited by 58
Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyMarieke M van der Knoop, Henry Houlden, Laila Selim et al.|Brain|2022Cited by 42
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
<i>RTN2</i> deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Henry Houlden, Arman Çakar et al.|Brain|2024Cited by 8