Publications by authors named "Anna Bonfitto"

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Intravenous allogeneic mesenchymal stromal cell therapy in 13 Pugs with presumptive early necrotizing meningoencephalitis.
Rebecca C Windsor, Samuel Stewart, Jennifer M Cassano, Boaz Arzi, Valentine S Williams, Anna Bonfitto

J Am Vet Med Assoc· November 2025

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Transcriptomic and protein analysis of human cortex reveals genes and pathways linked to NPTX2 disruption in Alzheimer's disease.
Yuelin Lao, Mei-Fang Xiao, Shiyu Ji, Ignazio S Piras, Anna Bonfitto

bioRxiv· October 2025

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Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes.
Keri Ramsey, Supraja Prakash, Jennifer Kerkhof, Bekim Sadikovic, Susan White, Anna Bonfitto

Genes (Basel)· August 2025

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Divergent multiomic acute exercise responses reveal the impact of sex as a biological variable.
Kaleen M Lavin, Samia M O'Bryan, Khyatiben V Pathak, Krystine Garcia-Mansfield, Zachary A Graham, Anna Bonfitto

Physiol Genomics· May 2025

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The genetics of TDP43-Type-C neurodegeneration: a whole genome sequencing study.
Malik Nassan, Ivan Alejandro Ayala, Jennifer Sloan, Anna Bonfitto, Bobbi Stark

medRxiv· January 2025

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Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the Gene.
Wayne M Jepsen, Andrew Fazenbaker, Keri Ramsey, Anna Bonfitto, Marcus Naymik

Int J Mol Sci· November 2024

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FGF12 copy number variant associated with epileptic encephalopathy.
Anna Abraham, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Wayne Jepsen, Anna Bonfitto

Clin Genet· July 2024

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Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel gene variant.
Megumi Leung, Meredith Sanchez-Castillo, Newell Belnap, Marcus Naymik, Anna Bonfitto

Rare· December 2023

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Dynamic transcriptomic responses to divergent acute exercise stimuli in young adults.
Kaleen M Lavin, Zachary A Graham, Jeremy S McAdam, Samia M O'Bryan, Devin Drummer, Anna Bonfitto

Physiol Genomics· April 2023

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Muscle transcriptomic circuits linked to periarticular physiology in end-stage osteoarthritis.
Devin J Drummer, Kaleen M Lavin, Zachary A Graham, Samia M O'Bryan, Jeremy S McAdam, Anna Bonfitto

Physiol Genomics· December 2022

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Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik

Mol Genet Genomic Med· February 2022

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