title: When disease strikes from nowhere.
authors.affiliation: Nature and Nature Methods.
authors.forename: Vivien
authors.initials: V
authors.lastname: Marx
mesh_terms: D000465:Algorithms; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D047108:Embryonic Development / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D014644:Genetic Variation / Q000235:genetics; D023281:Genomics / Q000379:methods*; D005854:Germ Cells / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D016296:Mutagenesis / Q000235:genetics*; D009426:Netherlands; D010290:Parents; D011247:Pregnancy; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D012107:Research Design; D050794:STAT1 Transcription Factor / Q000235:genetics; D012984:Software; D014481:United States; D000097603:Dyrk Kinases
chemical_list: D017346:Protein Serine-Threonine Kinases; D011505:Protein-Tyrosine Kinases; D050794:STAT1 Transcription Factor; D000097603:Dyrk Kinases; C494079:STAT1 protein, human