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Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.Nature Metabolism|June 13, 2024
Characterization of genetic variants of GIPR reveals a contribution of β-arrestin to metabolic phenotypesHüsün S Kizilkaya, Kimmie V Sørensen, Jakob S Madsen, 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.International Journal of Agricultural Sustainability|January 15, 2019
Looking back and moving forward: 50 years of soil and soil fertility management research in sub-Saharan AfricaB Vanlauwe, A H AbdelGadir, J Adewopo, et al.HGG Advances|January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityChaofan Zhang, Angad Jolly, Brian J Shayota, et al.Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.American Journal of Human Genetics|May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureRemzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.Physical Review Letters|October 16, 2020
eV-Scale Sterile Neutrino Search Using Eight Years of Atmospheric Muon Neutrino Data from the IceCube Neutrino ObservatoryM G Aartsen, R Abbasi, M Ackermann, et al.Physical Review Letters|February 18, 2022
Search for Relativistic Magnetic Monopoles with Eight Years of IceCube DataR Abbasi, M Ackermann, J Adams, et al.Pageof 30