Author

Rikhil Makwana

New York State Office for People With Developmental Disabilities

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:cell type annotation· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1 Assay:imaging· 1

Frequent Co-Authors

Elaine J. Marchi· 4 shared Gholson J. LyoniD· 4 shared Carolina Christ· 3 shared Randie Harpell· 3 shared Rahi PateliD· 2 shared Andrea Lynne GropmaniD· 1 shared Brigham J. Hartley· 1 shared Christina Y. MiyakeiD· 1 shared

Activity by Year

2024-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Elaine J. Marchi

Mutual co-authors in cluster

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4 papers

Recent·Most cited

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes

Rahi Patel, Rikhil Makwana, Carolina Christ, Elaine J. Marchi, Nathaniel Ung, Randie Harpell, Christina Y. Miyake, Andrea Lynne Gropman, Gholson J. Lyon, Matthew T. Whitehead

This study analyzes neuroimaging data from patients with NAA10- and NAA15-related neurodevelopmental syndromes to identify anatomical abnormalities and their correlation with clinical outcomes.

Journal of Neuroradiology · Apr 8, 2025Peer-reviewedGenetic & Genomic Medicine

A repository of Ogden syndrome (NAA10) and NAA15 patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.

Josephine Wesely, Tom Rusielewicz, Yu-Ren Chen, Brigham J. Hartley, Dayna McKenzie, Matthew Yim, Colin T. Maguire, Ryan D. Bia, Sarah Franklin, Rikhil Makwana, Elaine J. Marchi, Manali Nikte, Soha Patil, Maria L. Sapar, Dorota N. Moroziewicz, , Gholson J. Lyon

The paper describes the generation and characterization of patient-derived iPSC lines and isogenic pairs for Ogden syndrome, including CRISPR corrections and X-chromosome screening.

bioRxiv · Sep 28, 2024 · PreprintGenetics

Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention

Rikhil Makwana, Carolina Christ, Elaine J. Marchi, Randie Harpell, Gholson J. Lyon

This study reports longitudinal cognitive decline in Ogden syndrome, shows no difference in adaptive behavior by seizure status, and highlights speech therapy's limited effectiveness in early intervention.

American Journal of Medical Genetics Part A · May 15, 2024Peer-reviewedGenetic & Genomic Medicine

A Natural History of NAA15-related Neurodevelopmental Disorder Through Adolescence

Rikhil Makwana, Carolina Christ, Rahi Patel, Elaine J. Marchi, Randie Harpell, Gholson J. Lyon

The paper tracks adaptive functioning in individuals with NAA15-related neurodevelopmental disorder over time, finding sex differences in performance and decline.

medRxiv · Apr 20, 2024 · PreprintGenetic & Genomic Medicine