Top 20 of Rare Diseases

Article title # Publications/# Citations

Separation of the phosphoric esters on the filter paper chromatogram.

1949: CSHanes; FAIsherwood;

380

The path to personalized medicine.

2010: FSCollins; MAHamburg;

118

A general framework for detecting disease associations with rare variants in sequencing studies.

2011: DYLin; ZZTang;

72

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.

2012: NHLBI GO Exome Sequencing Project—ESP Lung Project Team; MJBamshad; KCBarnes; DCChristiani; MJEmond; SLee; XLin; DANickerson; MJRieder; MMWurfel;

61

Arrhythmogenic right ventricular cardiomyopathy.

2009: CBasso; DCorrado; FIMarcus; ANava; GThiene;

60

The challenges of Chagas Disease-- grim outlook or glimmer of hope.

2007: REGürtler; UKitron; RReithinger; RLTarleton; JAUrbina;

60

Massively parallel sequencing and rare disease.

2010: MJBamshad; SBNg; DANickerson; JShendure;

49

Epigenetic epidemiology of common complex disease: prospects for prediction, prevention, and treatment.

2010: GDavey Smith; CLRelton;

40

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

2008: Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network; MLBatshaw; SDCederbaum; GADiaz; DSKerr; JPKrischer; BLee; HSLee; ... ULichter-Konecki; RJMcCarter; MRSeashore; MLSummar; MTuchman; MYudkoff;

38

Sharing health data for better outcomes on PatientsLikeMe.

2010: RBradley; CBrownstein; JFrost; JHeywood; MMassagli; SOkun; TVaughan; PWicks;

37

Adaptive design methods in clinical trials - a review.

2008: MChang; SCChow;

31

Biliary atresia.

2009: MDavenport; JLHartley; DAKelly;

30

Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment.

2009: KLGuan; KInoki;

30

The quantitative separation of adrenaline and noradrenaline in biological fluids and tissue extracts.

1951: TBCRAWFORD; ASOutschoorn;

29

A breakthrough in R&D for neglected diseases: new ways to get the drugs we need.

2005: MMoran;

27

Survival of European children and young adults with cancer diagnosed 1995-2002.

2009: EUROCARE Working Group; RCapocaccia; JWCoebergh; EDesandes; GGatta; PKaatsch; GPastore; RPeris-Bonet; CAStiller; GZigon;

27

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

2011: SBezieau; VCormier-Daire; ADavid; CDina; LFaivre; BIsidor; SJacquemont; CLe Caignec; ... MLe Merrer; PLindenbaum; JLMandel; DMartin-Coignard; OPichon; RRedon; CThauvin-Robinet;

27

Clinical research for rare disease: opportunities, challenges, and solutions.

2008: Rare Diseases Clinical Research Network; MBatshaw; MDunkle; RGopal-Srivastava; RCGriggs; EKaye; JKrischer; PAMerkel; TNguyen; KPaulus;

26

Itraconazole to prevent fungal infections in chronic granulomatous disease.

2003: DWAlling; ESDeCarlo; EMEisenstein; JIGallin; SMHolland; DKoziol; HLMalech; BMarciano; ... JMStarling; MLTurner; RWesley;

26

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

2011: SQGregg; LJNiedernhofer; ARRobinson;

26