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Plos One|June 16, 2012
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY geneAmélie Bonnefond, Julien Philippe, Emmanuelle Durand, et al.Journal of Medical Genetics|March 8, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosisPatrick Frosk, Heleen H Arts, Julien Philippe, et al.The Journal of Clinical Investigation|June 2, 2025
TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in amyotrophic lateral sclerosis and frontotemporal dementiaFrederick J Arnold, Ya Cui, Sebastian Michels, et al.Nature Medicine|November 9, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertensionMorgane Baron, Julie Maillet, Marlène Huyvaert, et al.Pageof 4