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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline Dias, Reza Maroofian, Jaya Punetha et al.|The American Journal of Human Genetics|2019Cited by 58
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Marco Tartaglia, Elisabetta Flex et al.|Neurology|2018Cited by 52
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
Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathyReza Maroofian, Henry Houlden, Jiří Sedmík et al.|Journal of Medical Genetics|2020Cited by 30