共 232 条
[1]
Fernandez-Marmiesse A(2018)NGS technologies as a turning point in rare disease research Diagnosis Treat Curr Med Chem 25 404-432
[2]
Gouveia S(2018)Rare genetic diseases: update on diagnosis, treatment and online resources Drug Discov Today 23 187-195
[3]
Couce ML(2016)Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test Clin Genet 89 700-707
[4]
Pogue RE(2018)Paediatric genomics: diagnosing rare disease in children Nat Rev Genet 19 253-268
[5]
Cavalcanti DP(2017)Resequencing at scale in neurodevelopmental disorders Nat Genet 49 488-489
[6]
Shanker S(2014)Genome sequencing identifies major causes of severe intellectual disability Nature 511 344-347
[7]
Andrade RV(2005)Diagnostic error in internal medicine Arch Intern Med 165 1493-1499
[8]
Aguiar LR(2002)Reducing diagnostic errors in medicine: what’s the goal? Acad Med 77 981-992
[9]
de Carvalho JL(1980)The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks Am J Med Genet 5 117-123
[10]
Thevenon J(2013)Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease Hum Genet 132 1077-1130