Publications by authors named "Sean Calamia"

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Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder.
Khemika K Sudnawa, Alexa Geltzeiler, Cara H Kanner, Kyle Zreibe, Nicolò Pini, Sean Calamia

Clin Genet· July 2025

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Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder.
Khemika K Sudnawa, Nicolò Pini, Wenxing Li, Cara H Kanner, Joseph Ryu, Sean Calamia

Clin Genet· January 2025

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Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Khemika K Sudnawa, Wenxing Li, Sean Calamia, Cara H Kanner, Jennifer M Bain

Genet Med· August 2024

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Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Khemika K Sudnawa, Alison Garber, Ryan Cohen, Sean Calamia, Cara H Kanner

Clin Genet· May 2024

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Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder.
Kyle Zreibe, Cara H Kanner, David Uher, Gabriella Beard, Madison Patterson, Sean Calamia

Gait Posture· May 2024

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Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.
Khemika K Sudnawa, Sean Calamia, Alexa Geltzeiler, Wendy K Chung

Am J Med Genet A· March 2024

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Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.
Cara H Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Sean Calamia

Orphanet J Rare Dis· February 2024

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