Jameson JL, Longo DL: Precision medicine—personalized, problematic, and promising, N Engl J Med 372:2229–2234, 2015. [An insightful review on the challenges and opportunities of personalized medicine, also known as precision medicine, in the modern era of genomics and high throughput sequencing.]
Kalsner L, Chamberlain SJ: Prader-Willi, Angelman, and 15q11-q13 duplication syndromes, Pediatr Clin North Am 62:587–606, 2015. [An up-to-date review on the genetics, clinical findings, and natural history of children with these two imprinting disorders.]
Page MM, Stefanutti C, Sniderman A, et al: Recent advances in the understanding and care of familial hypercholesterolemia: significance of the biology and therapeutic regulation of proprotein convertase subtilisin/kexin type 9, Clin Sci 129:63–79, 2015. [A state-of-the-art review on mechanisms of cholesterol regulation by PCSK9, and how inhibition of this protein is being leveraged in the clinic for augmenting statin effects.]
Robinson JG, Farnier M, Krempf M, et al: Efficacy and safety of alirocumab in reducing lipids and cardiovascular events, N Engl J Med 372(16):1489–1499, 2015. [Seminal study establishing the benefits of PCSK9 inhibitors in hyperlipidemia.]
Stoltz DA, Meyerholz DK, Welsh MJ: Origins of cystic fibrosis lung disease, N Engl J Med 372:351–362, 2015. [An exhaustive review on pathophysiological mechanisms that contribute to the panorama of pulmonary diseases in cystic fibrosis, with numerous excellent illustrations.]
Trachtenberg FL, Haas EA, Kinney HC, et al: Risk factor changes for sudden infant death syndrome after initiation of Back-to-Sleep campaign, Pediatrics 129:630–638, 2012. [An important study that measures the impact of the “Back to Sleep” campaign on SIDS mortality, and what additional risk factors have emerged since then.]
Wainwright CE, TRAFFIC Study Group, TRANSPORT Study Group: Lumacaftor-Ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR, N Engl J Med 373:220–231, 2015. [Seminal study that led to FDA approval of the combination regimen of Lumacaftor and Ivacaftor, which enhance mutant Phe508del CFTR function in cystic fibrosis; Ivacaftor alone is approved for another variant of CFTR.]
Walz AL, Ooms A, Gadd S, et al: Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors, Cancer Cell 27(2):286–297, 2015. [Seminal sequencing study in Wilms tumors identifying mutations of genes involved in microRNA processing and consequent microRNA deregulation.]
Wong LC, Behr ER: Sudden unexplained death in infants and children: the role of undiagnosed inherited cardiac conditions, Europace 16:1706–1713, 2014. [An insightful review on how unsuspected cardiac conditions, specifically “channelopathies,” leading to sudden death in infancy might be erroneously diagnosed as SIDS.]