| # | Title | Journal | Year | Citations |
|---|
| 1 | Prevalence of Lysosomal Storage Disorders | JAMA - Journal of the American Medical Association | 1999 | 1,810 |
| 2 | A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy | Nature Genetics | 1995 | 1,074 |
| 3 | Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n | Science | 1991 | 908 |
| 4 | Dissemination of New Methicillin-Resistant Staphylococcus aureus Clones in the Community | Journal of Clinical Microbiology | 2002 | 810 |
| 5 | Fragile X genotype characterized by an unstable region of DNA | Science | 1991 | 791 |
| 6 | Chimeric receptors with 4-1BB signaling capacity provoke potent cytotoxicity against acute lymphoblastic leukemia | Leukemia | 2004 | 674 |
| 7 | Snake venom variability: methods of study, results and interpretation | Toxicon | 1991 | 606 |
| 8 | World Heart Federation criteria for echocardiographic diagnosis of rheumatic heart disease—an evidence-based guideline | Nature Reviews Cardiology | 2012 | 604 |
| 9 | The Pharmacodynamics of β‐Lactams | Clinical Infectious Diseases | 1998 | 566 |
| 10 | Effect of Magnesium Sulfate Given for Neuroprotection Before Preterm BirthA Randomized Controlled Trial | JAMA - Journal of the American Medical Association | 2003 | 555 |
| 11 | An unusual cause of severe metabolic acidosis | Medical Journal of Australia | 2006 | 552 |
| 12 | DNAM-1, A Novel Adhesion Molecule Involved in the Cytolytic Function of T Lymphocytes | Immunity | 1996 | 545 |
| 13 | The Mental Health of Young People in Australia: Key Findings from the Child and Adolescent Component of the National Survey of Mental Health and Well-Being | Australian and New Zealand Journal of Psychiatry | 2001 | 544 |
| 14 | CD30 antigen, a marker for Hodgkin's lymphoma, is a receptor whose ligand defines an emerging family of cytokines with homology to TNF | Cell | 1993 | 528 |
| 15 | Further segregation analysis of the fragile X syndrome with special reference to transmitting males | Human Genetics | 1985 | 496 |
| 16 | Distribution of ADH2 and ALDH2 genotypes in different populations | Human Genetics | 1992 | 479 |
| 17 | Natural habitat of Cryptococcus neoformans var. gattii | Journal of Clinical Microbiology | 1990 | 479 |
| 18 | Initial results from a prospective cohort study of 5583 cases of thyroid carcinoma treated in the United States during 1996 | Cancer | 2000 | 468 |
| 19 | Effect of DHA Supplementation During Pregnancy on Maternal Depression and Neurodevelopment of Young Children | JAMA - Journal of the American Medical Association | 2010 | 462 |
| 20 | PAK3 mutation in nonsyndromic X-linked mental retardation | Nature Genetics | 1998 | 432 |
| 21 | Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus | American Journal of Human Genetics | 2002 | 425 |
| 22 | Epidemiology and Host- and Variety-Dependent Characteristics of Infection Due to Cryptococcus neoformans in Australia and New Zealand | Clinical Infectious Diseases | 2000 | 421 |
| 23 | Amphotericin B: spectrum and resistance | Journal of Antimicrobial Chemotherapy | 2002 | 412 |
| 24 | Vitamins C and E and the Risks of Preeclampsia and Perinatal Complications | New England Journal of Medicine | 2006 | 411 |
| 25 | Stillbirths: the way forward in high-income countries | Lancet, The | 2011 | 389 |
| 26 | Antibody Response to Pneumococcal Vaccination in Children Younger than Five Years of Age | Journal of Infectious Diseases | 1983 | 386 |
| 27 | Fcα/μ receptor mediates endocytosis of IgM-coated microbes | Nature Immunology | 2000 | 346 |
| 28 | A rapid one-step procedure for purification of mononuclear and polymorphonuclear leukocytes from human blood using a modification of the hypaque-ficoll technique | Journal of Immunological Methods | 1978 | 345 |
| 29 | Dynamic mutations: A new class of mutations causing human disease | Cell | 1992 | 334 |
| 30 | Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene | American Journal of Human Genetics | 1997 | 331 |
| 31 | Neurodevelopmental Outcomes of Preterm Infants Fed High-Dose Docosahexaenoic Acid | JAMA - Journal of the American Medical Association | 2009 | 329 |
| 32 | Reduced virulence of a defined pneumolysin-negative mutant of Streptococcus pneumoniae | Infection and Immunity | 1989 | 328 |
| 33 | Simple tandem DNA repeats and human genetic disease. | Proceedings of the National Academy of Sciences of the United States of America | 1995 | 325 |
| 34 | Snake venoms and coagulopathy | Toxicon | 2005 | 325 |
| 35 | Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals | American Journal of Medical Genetics Part A | 1994 | 318 |
| 36 | Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project | Genetics in Medicine | 2011 | 308 |
| 37 | Identification of the gene FMR2, associated with FRAXE mental retardation | Nature Genetics | 1996 | 303 |
| 38 | Early Dissemination of NDM-1- and OXA-181-Producing Enterobacteriaceae in Indian Hospitals: Report from the SENTRY Antimicrobial Surveillance Program, 2006-2007 | Antimicrobial Agents and Chemotherapy | 2011 | 303 |
| 39 | Structure of a human lysosomal sulfatase | Structure | 1997 | 297 |
| 40 | Positional cloning of the Fanconi anaemia group A gene | Nature Genetics | 1996 | 294 |
| 41 | Cerebral palsy: causes, pathways, and the role of genetic variants | American Journal of Obstetrics and Gynecology | 2015 | 290 |
| 42 | The efficacy of playing a virtual reality game in modulating pain for children with acute burn injuries: A randomized controlled trial [ISRCTN87413556] | BMC Pediatrics | 2005 | 285 |
| 43 | Neonatal respiratory distress syndrome after repeat exposure to antenatal corticosteroids: a randomised controlled trial | Lancet, The | 2006 | 281 |
| 44 | Molecular and biological characterization of a ligand for CD27 defines a new family of cytokines with homology to tumor necrosis factor | Cell | 1993 | 275 |
| 45 | Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. | Proceedings of the National Academy of Sciences of the United States of America | 1990 | 274 |
| 46 | Treatment of Scedosporiosis with Voriconazole: Clinical Experience with 107 Patients | Antimicrobial Agents and Chemotherapy | 2008 | 274 |
| 47 | Outcomes at 2 Years of Age after Repeat Doses of Antenatal Corticosteroids | New England Journal of Medicine | 2007 | 257 |
| 48 | Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells | Human Molecular Genetics | 2000 | 256 |
| 49 | Ecology, life cycle, and infectious propagule of Cryptococcus neoformans | Lancet, The | 1990 | 255 |
| 50 | Description of aNaegleria sp. isolated from two cases of primary amoebic meningo-encephalitis, and of the experimental pathological changes induced by it | Journal of Pathology | 1970 | 254 |
