Elliott H. Sherr, M.D., Ph.D.
Affiliations: | Neurology | University of California, San Francisco, San Francisco, CA |
Area:
Agenesis of the Corpus CallosumGoogle:
"Elliott Sherr"Mean distance: 16.64 (cluster 11)
Children
Sign in to add trainee| Emanuela Argilli | research assistant | 2015- | UCSF |
| Dorothy M. Jones-Davis | post-doc | 2008- | UCSF |
Collaborators
Sign in to add collaborator| Lynn K. Paul | collaborator | UCSF | |
| Corby L. Dale | collaborator | 2011- | UCSF |
BETA: Related publications
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Publications
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| Le C, Argilli E, George E, et al. (2024) Basic helix-loop-helix transcription factor monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities. Medrxiv : the Preprint Server For Health Sciences |
| Früh S, Boudkkazi S, Koppensteiner P, et al. (2024) Monoallelic de novo loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Science Advances. 10: eadk5462 |
| Lemire G, Sanchis-Juan A, Russell K, et al. (2024) Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American Journal of Human Genetics |
| 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 |
| 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 |