Publications by authors named "Elliott Sherr"

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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Elliott Sherr

Ann Neurol· November 2025

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Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.
Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Elliott H Sherr

Eur J Paediatr Neurol· November 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Elliott H Sherr

Am J Hum Genet· October 2025

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CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Elliott H Sherr

Clin Genet· August 2025

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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli, Francesca Ariani, Elliott H Sherr

Eur J Hum Genet· August 2025

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MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, Tobias Bartolomaeus, Maria Escolar, Elliott Sherr

Epilepsia· July 2025

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Missense variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities.
Emanuela Argilli, Caleb Yang, Carolyn Le, Amanda M Elashoff, Kendall C Parks, Elliott H Sherr

medRxiv· May 2025

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C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.
Ruiji Jiang, Malek Chouchane, Kok Siong Chen, Ching Moey, Jens Bunt, Elliott Sherr

bioRxiv· March 2025

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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.
Carolyn Le, Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Elliott H Sherr

medRxiv· December 2024

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Noise induces Ca2+ signaling waves and Chop/S-Xbp1 expression in the hearing cochlea.
Yesai Park, Jiang Li, Noura Ismail Mohamad, Ian R Matthews, Peu Santra, Elliott H Sherr

JCI Insight· December 2024

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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
Maolei Gong, Jiayi Li, Zailong Qin, Matheus Vernet Machado Bressan Wilke, Yijun Liu, Sherr Elliott

Am J Hum Genet· November 2024

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Modulating the unfolded protein response with ISRIB mitigates cisplatin ototoxicity.
Jiang Li, Stephanie L Rouse, Ian R Matthews, Yesai Park, Yasmin Eltawil, Elliott H Sherr

Sci Rep· September 2024

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Vasopressin deficiency: a hypothesized driver of both social impairment and fluid imbalance in autism spectrum disorder.
Lauren Clarke, Neil Gesundheit, Elliott H Sherr, Antonio Y Hardan, Karen J Parker

Mol Psychiatry· August 2024

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Monoallelic de novo loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
Simon Früh, Sami Boudkkazi, Peter Koppensteiner, Vita Sereikaite, Li-Yuan Chen, Elliott H Sherr

Sci Adv· July 2024

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Modulating the Unfolded Protein Response with ISRIB Mitigates Cisplatin Ototoxicity.
Jiang Li, Stephanie L Rouse, Ian R Matthews, Elliott H Sherr, Dylan K Chan

bioRxiv· June 2024

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Discovering the gene-brain-behavior link in autism via generative machine learning.
Shinjini Kundu, Haris Sair, Elliott H Sherr, Pratik Mukherjee, Gustavo K Rohde

Sci Adv· June 2024

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Noise induces intercellular Ca signaling waves and the unfolded protein response in the hearing cochlea.
Yesai Park, Jiang Li, Noura Ismail Mohamad, Ian R Matthews, Peu Santra, Elliott H Sherr

bioRxiv· June 2024

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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Elliott H Sherr

Am J Hum Genet· May 2024

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Loss-of-function variants in cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Solveig Heide, Emanuela Argilli, Stéphanie Valence, Lucile Boutaud, Nathalie Roux, Elliott Sherr

J Med Genet· February 2024

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Diverse childhood neurologic disorders and outcomes following fetal neurologic consultation.
Dawn Gano, Andrea C Pardo, Orit A Glenn, Elliott Sherr

Semin Fetal Neonatal Med· February 2024

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TMTC4 is a hair cell-specific human deafness gene.
Jiang Li, Byung Yoon Choi, Yasmin Eltawil, Noura Ismail Mohamad, Yesai Park, Elliott H Sherr

JCI Insight· December 2023

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Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Elliott Sherr

NPJ Genom Med· October 2023

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Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Elliott H Sherr

medRxiv· October 2023

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The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Margaret Gadek, Elliott H Sherr, Stephen N Floor

Trends Mol Med· September 2023

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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Elliott Sherr

Am J Hum Genet· August 2023

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