Author

Kimberly Smyth

Alfred I. duPont Hospital for Children

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:electronic health records· 1 Research Focus:genome assembly· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Amélie PitoniD· 1 shared Amy McTagueiD· 1 shared Angel Wang· 1 shared Anjali SadhwaniiD· 1 shared Anne de Saint MartiniD· 1 shared Anne WheeleriD· 1 shared Argirios DinopoulosiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alba Sanchis‐JuanORCID

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2 papers

Recent·Most cited

Assessment of adaptive functioning in Angelman syndrome using the Vineland Adaptive Behavior Scales, Third Edition

Sarah Nelson Potter, Julia Zhang, Batsheva Friedman, Julia M. Gable, Nadia Ali, Rene L. Barbieri‐Welge, Ayala Ben-Tall, Kelly E. Caravella, Margaret DeRamus, Dea Garic, M. MacKay, Kara Murias, Sarika U. Peters, Kimberly Smyth, Jane Summers, , Anjali Sadhwani

This study tracks adaptive functioning in Angelman syndrome using Vineland-3, finding slower growth in deletion subtypes and parallel developmental trajectories across subtypes.

medRxiv · Jun 22, 2026 · PreprintGenetic & Genomic Medicine

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, Anne de Saint Martin, Marie Therese Abiwarde, Amy McTague, Roser Maria Pons, Amélie Piton, Manju A. Kurian, Gautam Ambegaonkar, Helen V. Firth, Alba Sanchis‐Juan, , Elena Gardella

The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.

Genetics in Medicine · Dec 6, 2021Peer-reviewedGenetic & Genomic Medicine