January 17, 2013 article Open access Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies PLoS Genetics DOI: 10.1371/journal.pgen.1003143 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 3 stored of 154 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation 2021 Journal of Clinical Investigation article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access 23 citations A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69 2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access 2 citations Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis 2021 Annals of Surgery article Medicine Pancreatitis Pathology and Treatment Open access 12 citations 3 results References 0