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Annals of Neurology|February 1, 2011
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophyA Reghan Foley, Ying Hu, Yaqun Zou, et al.Molecular & Cellular Proteomics : MCP|September 21, 2011
Absolute quantification of the glycolytic pathway in yeast: deployment of a complete QconCAT approachKathleen M Carroll, Deborah M Simpson, Claire E Eyers, et al.Evolution Letters|August 8, 2019
Genomics of rapid ecological divergence and parallel adaptation in four tidal marsh sparrowsJennifer Walsh, Phred M Benham, Petra E Deane-Coe, et al.Diabetes|January 19, 2022
PTPN2 Regulates the Interferon Signaling and Endoplasmic Reticulum Stress Response in Pancreatic β-Cells in Autoimmune DiabetesBernat Elvira, Valerie Vandenbempt, Julia Bauzá-Martinez, et al.Neuromuscular Disorders : NMD|December 24, 2023
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathyVilma-Lotta Lehtokari, Lydia Sagath, Mark Davis, et al.F1000Research|August 8, 2017
ELIXIR-UK role in bioinformatics training at the national level and across ELIXIRL Larcombe, R Hendricusdottir, T K Attwood, et al.Journal of Neuropathology and Experimental Neurology|April 9, 2014
Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutationsKatherine G Meilleur, Kristen Zukosky, Livija Medne, et al.Nature Genetics|April 24, 2012
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeTobias Willer, Hane Lee, Mark Lommel, et al.Journal of Medical Genetics|April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyKelly A Bear, Benjamin D Solomon, Sonir Antonini, et al.Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.Pageof 12