Author

Richard Webster

Children's Hospital at WestmeadORCID 0000-0002-8198-2207Unclaimed ORCID profile · follow to get notified of new preprints

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Richard Webster1 paper

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:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ingrid Eileen SchefferiD· 2 shared Michael S. HildebrandiD· 2 shared Alena Jahodová· 1 shared Allan BayatiD· 1 shared Allyn McConkie‐RoselliD· 1 shared Amber BoysiD· 1 shared Andrea Paras· 1 shared Angela Tamsin MorganiD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ingrid Eileen SchefferORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineMolecular PsychiatryPeer-reviewedSep 18, 2022

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson…·Angela Tamsin Morgan

This study identifies 18 high-confidence genetic variants in 26% of childhood apraxia of speech cases, expanding the list of candidate genes and highlighting shared pathways with other neurodevelopmental disorders.

40 citationstop 3%

humanwhole-exome sequencing

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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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