| # | Title | Journal | Year | Citations |
|---|
| 1 | Clinical spectrum of X-linked hyper-IgM syndrome | Journal of Pediatrics | 1997 | 604 |
| 2 | Effect of a Probiotic Infant Formula on Infections in Child Care Centers: Comparison of Two Probiotic Agents | Pediatrics | 2005 | 492 |
| 3 | Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate | Nature Genetics | 2000 | 439 |
| 4 | Homozygosity mapping with SNP arrays identifiesTRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11) | Proceedings of the National Academy of Sciences of the United States of America | 2006 | 378 |
| 5 | Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome | Nature Genetics | 2002 | 327 |
| 6 | Proposed Mechanisms for the Induction of Insulin Resistance by Oxidative Stress | Antioxidants and Redox Signaling | 2005 | 322 |
| 7 | miRNA malfunction causes spinal motor neuron disease | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 299 |
| 8 | Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 | Nature Genetics | 2001 | 254 |
| 9 | The Decreasing Prevalence of Reversible Dementias | Archives of Internal Medicine | 2003 | 239 |
| 10 | Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3) | American Journal of Human Genetics | 2004 | 220 |
| 11 | The mosaic of autoimmunity | Trends in Immunology | 1989 | 218 |
| 12 | Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping | Human Molecular Genetics | 1994 | 216 |
| 13 | Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss | Human Mutation | 1998 | 216 |
| 14 | Dopamine D4 receptor (D4DR) and serotonin transporter promoter (5-HTTLPR) polymorphisms in the determination of temperament in 2-month-old infants | Molecular Psychiatry | 1999 | 210 |
| 15 | Reduction of pneumococcal nasopharyngeal carriage in early infancy after immunization with tetravalent pneumococcal vaccines conjugated to either tetanus toxoid or diphtheria toxoid | Pediatric Infectious Disease Journal | 1997 | 208 |
| 16 | Prognostic factors in polymyositis/dermatomyositis. A computer‐assisted analysis of ninety‐two cases | Arthritis and Rheumatism | 1985 | 207 |
| 17 | Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease | Genetics in Medicine | 2012 | 183 |
| 18 | Relation of Shyness in Grade School Children to the Genotype for the Long Form of the Serotonin Transporter Promoter Region Polymorphism | American Journal of Psychiatry | 2003 | 182 |
| 19 | Association of Body Position With Severity of Apneic Events in Patients With Severe Nonpositional Obstructive Sleep Apnea | Chest | 2000 | 177 |
| 20 | Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity | Nature Genetics | 1993 | 176 |
| 21 | Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15 | Human Molecular Genetics | 1995 | 171 |
| 22 | Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1 | American Journal of Human Genetics | 2002 | 164 |
| 23 | Continuous Postoperative Regional Analgesia by Nerve Sheath Block for Amputation Surgery-A Pilot Study | Anesthesia and Analgesia | 1991 | 153 |
| 24 | Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9 | American Journal of Human Genetics | 2008 | 147 |
| 25 | Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field | American Journal of Medical Genetics Part A | 1992 | 146 |
| 26 | CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy | Blood | 2013 | 142 |
| 27 | Sleep characteristics in children with Down syndrome | Journal of Pediatrics | 1999 | 141 |
| 28 | Basic numerical processing in left intraparietal sulcus (IPS) acalculia | Cortex | 2008 | 141 |
| 29 | Acute Pancreatitis in Childhood | Journal of Clinical Gastroenterology | 2003 | 138 |
| 30 | Posttraumatic stress disorder, tenderness and fibromyalgia | Journal of Psychosomatic Research | 1997 | 133 |
| 31 | An association between fibromyalgia and the dopamine D4 receptor exon III repeat polymorphism and relationship to novelty seeking personality traits | Molecular Psychiatry | 2004 | 132 |
| 32 | Identification of Respiratory Viruses in Adults: Nasopharyngeal versus Oropharyngeal Sampling | Journal of Clinical Microbiology | 2009 | 126 |
| 33 | Use of isolated inbred human populations for identification of disease genes | Trends in Genetics | 1998 | 121 |
| 34 | Respiratory Viruses in Adults With Community-Acquired Pneumonia | Chest | 2010 | 119 |
| 35 | Patient-reported outcomes following pembrolizumab or placebo plus pemetrexed and platinum in patients with previously untreated, metastatic, non-squamous non-small-cell lung cancer (KEYNOTE-189): a multicentre, double-blind, randomised, placebo-controlled, phase 3 trial | Lancet Oncology, The | 2020 | 119 |
| 36 | Melatonin Effect on Seizures in Children with Severe Neurologic Deficit Disorders | Epilepsia | 2002 | 117 |
| 37 | Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1) | American Journal of Human Genetics | 2003 | 117 |
| 38 | Antibiotic Treatment of Pediatric Community-Acquired Lower Respiratory Tract Infections: Challenges and Possible Solutions | Respiration | 1993 | 109 |
| 39 | Exclusion of Older People from Clinical Trials | Drugs and Aging | 2011 | 109 |
| 40 | Sulphur bath and mud pack treatment for rheumatoid arthritis at the Dead Sea area. | Annals of the Rheumatic Diseases | 1990 | 105 |
| 41 | Extrahepatic biliary atresia and associated anomalies: Etiologic heterogeneity suggested by distinctive patterns of associations | American Journal of Medical Genetics Part A | 1993 | 104 |
| 42 | Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients | American Journal of Medical Genetics Part A | 1994 | 104 |
| 43 | Sleep Characteristics Following Adenotonsillectomy in Children With Obstructive Sleep Apnea Syndrome | Chest | 2003 | 104 |
| 44 | Bracing in external rotation for traumatic anterior dislocation of the shoulder | Journal of Bone and Joint Surgery: British Volume | 2009 | 103 |
| 45 | Validation of a fall-risk screening test, the Elderly Fall Screening Test (EFST), for community-dwelling elderly | Disability and Rehabilitation | 1998 | 99 |
| 46 | Marked increase in plasma high-density-lipoprotein cholesterol after prolonged fasting during Ramadan | American Journal of Clinical Nutrition | 1993 | 96 |
| 47 | Phenotypic differences among patients with Bardet‐Biedl syndrome linked to three different chromosome loci | American Journal of Medical Genetics Part A | 1995 | 96 |
| 48 | Cor Pulmonale Due to Adenoidal or Tonsillar Hypertrophy or Both in Children | Chest | 1988 | 95 |
| 49 | High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2 | American Journal of Human Genetics | 2011 | 95 |
| 50 | Failure of early postnatal dexamethasone to prevent chronic lung disease in infants with respiratory distress syndrome. | Archives of Disease in Childhood: Fetal and Neonatal Edition | 1996 | 92 |
