Publications

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Journal Article
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NMenjot et al..  2017.  Cover Image, Volume 173A, Number 2, February 2017.. Am J Med Genet A. 173(2):i.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NMenjot et al..  2017.  Implication of LRRC4C and DPP6 in neurodevelopmental disorders.. Am J Med Genet A. 173(2):395-406.
Bell S, McCarty V, Peng H, Jefri M, Hettige N, Antonyan L, Crapper L, O'Leary LA, Zhang X, Zhang Y et al..  2021.  Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.. Stem Cell Reports. 16(7):1749-1762.
Bell S, Kolobova I, Crapper L, Ernst C.  2016.  Lesch-Nyhan Syndrome: Models, Theories, and Therapies.. Mol Syndromol. 7(6):302-311.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Théroux J-F, Jefri M, Tanti A, Wu H, Kolobova I et al..  2019.  Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.. Am J Hum Genet. 104(5):815-834.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Théroux J-F, Jefri M, Tanti A, Wu H, Kolobova I et al..  2019.  Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. The American Journal of Human Genetics.
Bell S, Peng H, Crapper L, Kolobova I, Maussion G, Vasuta C, Yerko V, Wong TPan, Ernst C.  2017.  A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing.. Stem Cells Transl Med. 6(3):886-896.