Publications by authors named "Sarah Ruggiero"

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AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent-Delorme, Sarah Ruggiero

Am J Med Genet A· November 2025

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Sarah McKeown Ruggiero

Nat Genet· November 2025

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Clinical trajectories and medication response in TBC1D24-related epilepsies.
Ealing Mondragon, Jan H Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M Ruggiero

Epilepsia· November 2025

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Reliability and Stability of Cerebral Palsy Classification Scales for Individuals with Related Disorders and Related Disorders.
Samuel R Pierce, Julie M Orlando, Kristin G Cunningham, Sarah M Ruggiero, Jillian L McKee

medRxiv· 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, Sarah M Ruggiero

Am J Hum Genet· October 2025

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Quantitative EEG Biomarkers in the Genetic Epilepsies and Associations With Neurologic Outcomes.
Peter D Galer, Jillian L McKee, Sarah M Ruggiero, Michael C Kaufman, William K S Ojemann

Neurology· October 2025

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Quantification of neuromotor control in -Related Disorders with wearable sensors.
Julie M Orlando, Bintou Bane, Torrey Chisari, Jan H Magielski, Samuel R Pierce, Sarah Ruggiero

medRxiv· September 2025

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Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, Colin A Ellis, Alicia G Harrison

Am J Hum Genet· June 2025

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Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Shiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, Peter D Galer, David Lewis-Smith

bioRxiv· March 2025

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The clinical and genetic spectrum of paediatric speech and language disorders.
Jan H Magielski, Sarah M Ruggiero, Julie Xian, Shridhar Parthasarathy, Peter D Galer

Brain· February 2025

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Variants in , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, Colin A Ellis, Alicia G Harrison

medRxiv· February 2025

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Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.
Peter D Galer, Shridhar Parthasarathy, Julie Xian, Jillian L McKee, Sarah M Ruggiero

Genet Med· November 2024

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Quantitative EEG Spectral Features Differentiate Genetic Epilepsies and Predict Neurologic Outcomes.
Peter D Galer, Jillian L McKee, Sarah M Ruggiero, Michael C Kaufman, Ian McSalley

medRxiv· October 2024

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Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm.
Alexis Karlin, Sarah Ruggiero, Mark Fitzgerald

Curr Probl Pediatr Adolesc Health Care· August 2024

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Expanding Genetic Counselor Roles: A Model for Global Research Development.
Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, T Blaine Crowley, Stephanie Asher, Sarah M Ruggiero

Genes (Basel)· July 2024

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The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.
Jan Magielski, Sarah M Ruggiero, Julie Xian, Shridhar Parthasarathy, Peter Galer

medRxiv· April 2024

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Early life seizures and epileptic spasms in STXBP1-related disorders.
Kim M Thalwitzer, Julie Xian, Danielle de Campo, Shridhar Parthasarathy, Jan Magielski, Sarah M Ruggiero

Epilepsia· March 2024

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De novo variants in DENND5B cause a neurodevelopmental disorder.
Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen, Sarah M Ruggiero

Am J Hum Genet· March 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Sarah M Ruggiero

J Clin Invest· January 2024

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Molecular and Phenotypic Characterization of the -Related Disorder.
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Sarah M Ruggiero

Neurology· January 2024

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Delineating clinical and developmental outcomes in STXBP1-related disorders.
Julie Xian, Kim Marie Thalwitzer, Jillian McKee, Katie Rose Sullivan, Elise Brimble, Sarah M Ruggiero

Brain· December 2023

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Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
Chad R Camp, Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G Banke, Sarah M Ruggiero

Commun Biol· September 2023

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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in .
Kim M Thalwitzer, Jan H Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Sarah McKeown Ruggiero

Neurology· August 2023

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Early life seizures and epileptic spasms in -related disorders.
Kim M Thalwitzer, Julie Xian, Danielle deCampo, Shridhar Parthasarathy, Jan Magielski, Sarah M Ruggiero

medRxiv· June 2023

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Delineating clinical and developmental outcomes in -related disorders.
Julie Xian, Kim Marie Thalwitzer, Jillian McKee, Katie Rose Sullivan, Elise Brimble, Sarah M Ruggiero

medRxiv· May 2023

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