Author

Constance L. Smith‐Hicks

Kennedy Krieger InstituteORCID 0000-0001-8241-9574Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anna ChasseventiD· 3 shared Andrea AccogliiD· 2 shared Karin WeissiD· 2 shared Lynne M. BirdiD· 2 shared Marcello ScalaiD· 2 shared Valeria CapraiD· 2 shared Adam JacksoniD· 1 shared Aditi Shah ParikhiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Anna ChasseventORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedNov 27, 2025

Brain development mutations in the β-tubulin TUBB result in defective ciliogenesis

Antonio Mollica, Safia Omer, Georgiana Forguson…·Evgueni A. Ivakine

The paper identifies a novel TUBB mutation linked to both ciliopathy and tubulinopathy brain features, showing it impairs ciliogenesis by altering microtubule dynamics.

2 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedOct 24, 2024

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

23 citationstop 3%

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintAug 9, 2022

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

Carolina Gracia-Diaz, Yijing Zhou, Qian Yang…·Naiara Akizu

1 citation

humanexperimental assay

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GeneticsBrainPeer-reviewedDec 16, 2021

Determining pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

Jeffrey Dennis Calhoun, Miriam C. Aziz, Hannah C. Happ…·Gemma L. Carvill

The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky