Emanuela Argilli, Ph.D.
Affiliations: | Neurology | University of California, San Francisco, San Francisco, CA |
Area:
Addiction, AutismGoogle:
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Parents
Sign in to add mentorElliott H. Sherr | research assistant | 2015- | UCSF |
Antonello Bonci | post-doc | 2004-2010 | Ernest Gallo Clinic and Research Center, UCSF |
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Publications
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Heide S, Argilli E, Valence S, et al. (2023) Loss-of-function variants in cause dominant anomalies of the corpus callosum with favourable cognitive prognosis. Journal of Medical Genetics |
Accogli A, Zaki MS, Al-Owain M, et al. (2023) Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain Communications. 5: fcad222 |
Vetro A, Pelorosso C, Balestrini S, et al. (2023) Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. American Journal of Human Genetics |
de Sainte Agathe JM, Pode-Shakked B, Naudion S, et al. (2023) -related disorder: phenotypic and molecular spectrum. Journal of Medical Genetics |
Nakashima M, Argilli E, Nakano S, et al. (2022) De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of Human Genetics |
Leitão E, Schröder C, Parenti I, et al. (2022) Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications. 13: 6570 |
Qian X, DeGennaro EM, Talukdar M, et al. (2022) Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Developmental Cell |
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 |