Author

Barbara K. Burton

Northwestern UniversityORCID 0000-0002-3691-7190Unclaimed 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· 1

Frequent Co-Authors

Alena Jahodová· 1 shared Allan BayatiD· 1 shared Allan Micheil InnesiD· 1 shared Allyn McConkie‐RoselliD· 1 shared Amalia GoulaiD· 1 shared Andrea Paras· 1 shared Andreas RoosiD· 1 shared Andrew A. Schmanski· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alena Jahodová

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2 papers

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedNov 1, 2022

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

Lot Snijders Blok, Jolijn J. A. Verseput, Dmitrijs Rots…·Tjitske Kleefstra

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

10 citations

𝕏 PostBluesky

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

𝕏 PostBluesky