Emanuela Argilli, Ph.D.

Neurology University of California, San Francisco, San Francisco, CA 
Addiction, Autism
"Emanuela Argilli"
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Holtz AM, Vancoil R, Vansickle EA, et al. (2022) Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Siafa L, Argilli E, Sherr EH, et al. (2022) De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities. Pediatric Neurology. 131: 1-3
Gafner M, Michelson M, Argilli E, et al. (2021) Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders. Journal of Human Genetics
Velmans C, O'Donnell-Luria AH, Argilli E, et al. (2021) O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Journal of Medical Genetics
Oztan O, Talbot CF, Argilli E, et al. (2021) Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys. Molecular Autism. 12: 50
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, et al. (2021) Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. American Journal of Human Genetics
Hengel H, Hannan SB, Dyack S, et al. (2021) Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics
Jeanne M, Demory H, Moutal A, et al. (2021) Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. American Journal of Human Genetics
Accogli A, Calabretta S, St-Onge J, et al. (2019) De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. American Journal of Human Genetics. 105: 854-868
Madhavan A, Argilli E, Bonci A, et al. (2013) Loss of D2 dopamine receptor function modulates cocaine-induced glutamatergic synaptic potentiation in the ventral tegmental area. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 12329-36
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