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Helbig I, Lopez-Hernandez T, Shor O, et al. (2019) A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. American Journal of Human Genetics
Jabbari K, Bobbili DR, Lal D, et al. (2018) Rare gene deletions in genetic generalized and Rolandic epilepsies. Plos One. 13: e0202022
Bobbili DR, Lal D, May P, et al. (2018) Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. European Journal of Human Genetics : Ejhg
Niturad CE, Lev D, Kalscheuer VM, et al. (2017) Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain : a Journal of Neurology
Keck M, Androsova G, Gualtieri F, et al. (2017) A systems level analysis of epileptogenesis-associated proteome alterations. Neurobiology of Disease
Köhler S, Vasilevsky NA, Engelstad M, et al. (2016) The Human Phenotype Ontology in 2017. Nucleic Acids Research
Lal D, Reinthaler EM, Dejanovic B, et al. (2016) Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. Plos One. 11: e0150426
Lal D, Steinbrücker S, Schubert J, et al. (2015) Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Research. 115: 95-9
Wiedenhoeft J, Krause R, Eulenstein O. (2011) The plexus model for the inference of ancestral multidomain proteins. Ieee/Acm Transactions On Computational Biology and Bioinformatics / Ieee, Acm. 8: 890-901
Tegha-Dunghu J, Neumann B, Reber S, et al. (2008) EML3 is a nuclear microtubule-binding protein required for the correct alignment of chromosomes in metaphase. Journal of Cell Science. 121: 1718-26