Joseph A. Marsh

Aug 9, 2024 | onlinelibrary.wiley.com | Holly Black |South East |Jose Campos |Alison Meynert |Holly Black |Mihail Halachev | +7 more

1 INTRODUCTION Primary ciliary dyskinesia (PCD, OMIM: PS244400) is a genetic disorder of motile cilia,1-3 which are highly structurally organized organelles that project from the surface of the cells. Motile cilia beat in a coordinated manner to effectively propel fluids across the surface of the airways, brain ventricles and reproductive tracts.

Apr 2, 2024 | nature.com | Alix Paulet |Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam | +11 more

Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-024-01560-8, published online 15 February 2024In the original version of this article, the given and family names of Samuel Groeschel were incorrectly structured. The name was displayed correctly in all versions at the time of publication.

Feb 14, 2024 | nature.com | Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam |Francis Ramond | +11 more

AbstractTranslation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting EEF1A2 have been described in 42 individuals with a severe neurodevelopmental phenotype including epileptic encephalopathy and moderate to profound intellectual disability (ID), with neurological regression in some patients.

Sep 19, 2023 | science.org | Robin J. Dart |Eric J. Topol |Sriram Balusu |Joseph A. Marsh

Information & AuthorsPublished InArticle versionsAcknowledgmentsS.A.T. is a scientific advisory board member of Foresite Labs, Qiagen, and Element Biosciences and a cofounder and equity holder of Transition Bio and EnsoCell. Metrics & Citations Article Usage Altmetrics Cite as Predicting pathogenic protein variants.Science0,eadj8672DOI:10.1126/science.adj8672 Export citation Select the format you want to export the citation of this publication.

Aug 10, 2023 | nature.com | Joseph A. Marsh

A novel pipeline that expands the utility of the protein language model ESM1b has provided variant effect predictions for more than 40,000 protein isoforms. This strategy outperformed several state-of-the-art methods over multiple benchmarks. Computational variant effect prediction has benefited greatly from recent advances in machine learning.