Author

Guillem de Valles‐Ibáñez

University of OtagoORCID 0000-0002-6242-4306Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alena Jahodová· 1 shared Allan BayatiD· 1 shared Allyn McConkie‐RoselliD· 1 shared Andrea Paras· 1 shared Anita DattaiD· 1 shared Anju ShuklaiD· 1 shared Barbara K. BurtoniD· 1 shared Brenda E. PorteriD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alena Jahodová

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 26, 2022

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

Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel…·Gemma L. Carvill

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

DOI 10.1101/2022.04.26.22274147

humanstatistical model

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