Author

Maureen Gavin

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

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Elaine J. Marchi· 3 shared Gholson J. LyoniD· 3 shared Karen Amble· 3 shared Katherine Sandomirsky· 2 shared A. Haworth· 1 shared Agnes Y. ParkiD· 1 shared Alfonso Caro‐LlopisiD· 1 shared Ana Luı́sa CarvalhoiD· 1 shared

Activity by Year

2021-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Elaine J. Marchi

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3 papers

Recent·Most cited

Expanding the Phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

Gholson J. Lyon, Marall Vedaie, Travis Besheim, Agnes Y. Park, Elaine J. Marchi, Leah Gottlieb, Tzung‐Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois Janelle Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, , Ellen M. Herr-Israel

The paper expands the phenotypic spectrum of NAA10 and NAA15-related neurodevelopmental syndromes by analyzing clinical data from 106 NAA10 and 66 NAA15 variant carriers, revealing variable severity and multi-system involvement.

medRxiv · Aug 22, 2022 · PreprintGenetic & Genomic Medicine

Phenotypic variability and Gastrointestinal Manifestations/Interventions for growth in Ogden syndrome (also known as NAA10-related Syndrome)

Katherine Sandomirsky, Elaine J. Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon

This study examines growth failure and gastrointestinal symptoms in children with Ogden Syndrome, finding that G-tubes/GJ-tubes improve weight gain but require careful management.

medRxiv · Mar 16, 2022 · PreprintGenetic & Genomic Medicine

Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity

Robert S. Kleyner, Mohd Arif, Elaine J. Marchi, Naomi Horowitz, A. Haworth, Brian King, Karen Amble, Maureen Gavin, Milen T. Velinov, Gholson J. Lyon

This paper reports a non-consanguineous family with autosomal recessive SLC30A9 mutations associated with a cerebro-renal syndrome and conducts a limited population allele frequency analysis.

Molecular Case Studies · Oct 29, 2021Peer-reviewedGenetic & Genomic Medicine