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American Journal of Medical Genetics. Part A|November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndromeBo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.Radiology|September 10, 2024
Reproducibility and Repeatability of US Shear-Wave and Transient Elastography in Nonalcoholic Fatty Liver DiseaseTheodore T Pierce, Arinc Ozturk, Sarah P Sherlock, et al.Science Immunology|March 11, 2021
Inflammatory profiles across the spectrum of disease reveal a distinct role for GM-CSF in severe COVID-19Ryan S Thwaites, Ashley Sanchez Sevilla Uruchurtu, Matthew K Siggins, et al.American Journal of Medical Genetics. Part A|March 29, 2023
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literatureGabriella Gazdagh, David Hunt, Anna Maria Cueto Gonzalez, et al.The European Respiratory Journal|January 22, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesiaAmelia Shoemark, Bruna Rubbo, Marie Legendre, et al.The Journal of Experimental Medicine|April 20, 2017
Detection of interferon alpha protein reveals differential levels and cellular sources in diseaseMathieu P Rodero, Jérémie Decalf, Vincent Bondet, et al.Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.American Journal of Respiratory and Critical Care Medicine|July 19, 2022
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung DiseaseMatina Prapa, Mauro Lago-Docampo, Emilia M Swietlik, et al.Pageof 19