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Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 25, 2019
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patientsSina Renner, Helke Schüler, Malik Alawi, et al.Neurology. Genetics|February 12, 2020
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathyKatrine M Johannesen, Diana Mitter, Robert Janowski, et al.Annals of Clinical and Translational Neurology|April 26, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- miceMilka Pringsheim, Diana Mitter, Simone Schröder, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.Nature Communications|November 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological developmentDavor Lessel, Daniela M Zeitler, Margot R F Reijnders, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2019
PEDIA: prioritization of exome data by image analysisTzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.Pageof 3