Author

Anna Chassevent

Kennedy Krieger InstituteORCID 0000-0002-6777-3978Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Constance L. Smith‐HicksiD· 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

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Constance L. Smith‐HicksORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

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

Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance L. Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah T. Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, , Cristina Dias

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

European Journal of Human Genetics · Oct 24, 2024Peer-reviewedGenetic & Genomic Medicine

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

Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul R. Mark, Margaret Horton Harr, Hakon H. Hakonarson, Lance H. Rodan, , Naiara Akizu

medRxiv · Aug 9, 2022 · PreprintGenetic & Genomic Medicine

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, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller, Emily M. Bryant, Divakar S. Mithal, Irena I. Bellinski, Lisa M. Kinsley, Mona Grimmel, Eva Maria Christina Schwaibold, Constance L. Smith‐Hicks, , 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.

Brain · Dec 16, 2021Peer-reviewedGenetics