Publications

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Author Title [ Year(Asc)]
Filters: Author is Zaki, Maha S and Keyword is Genetic Predisposition to Disease  [Clear All Filters]
2019
Friedman, J. et al. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun 10, 707 (2019).
Estañ, M. Cristina et al. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun 10, 797 (2019).
2016
Zaki, M. S. et al. PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Ann Neurol 80, 59-70 (2016).
2015
Roosing, S. et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 4, e06602 (2015).
2013
Radmanesh, F. et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 92, 468-74 (2013).