Author

Kathleen Mary Gorman

University College DublinORCID 0000-0002-5488-1507Unclaimed ORCID profile · follow to get notified of new preprints

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:gene regulatory network inference· 1

Frequent Co-Authors

Alena Jahodová· 1 shared Alice GoldenbergiD· 1 shared Allan BayatiD· 1 shared Allyn McConkie‐RoselliD· 1 shared Andrea Paras· 1 shared Anita DattaiD· 1 shared Anju ShuklaiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alena Jahodová

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2 papers

Recent·Most cited

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen Mary Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Sophie Julia, Johannes R. Lemke, , Konrad Platzer

The paper identifies STX1A variants causing a neurodevelopmental disorder with or without epilepsy, showing different phenotypes based on variant type.

European Journal of Human Genetics · Dec 23, 2022Peer-reviewedGenetic & Genomic Medicine

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell, Marie McDonald, Halie J. May, Tristan T. Sands, Vimla S. Aggarwal, Christopher J. Elder, Timothy J. Feyma, Allan Bayat, Rikke Steensbjerre Møller, Christina Fenger, , Gemma L. Carvill

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

medRxiv · Apr 26, 2022 · PreprintGenetic & Genomic Medicine