| # | Title | Journal | Year | Citations |
|---|
| 1 | Heat Stroke | New England Journal of Medicine | 2002 | 1,772 |
| 2 | Epidemiological, demographic, and clinical characteristics of 47 cases of Middle East respiratory syndrome coronavirus disease from Saudi Arabia: a descriptive study | Lancet Infectious Diseases, The | 2013 | 1,191 |
| 3 | The Heidelberg classification of renal cell tumours | Lancet Infectious Diseases, The | 1997 | 1,142 |
| 4 | EULAR/PRINTO/PRES criteria for Henoch-Schonlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria | Annals of the Rheumatic Diseases | 2010 | 1,073 |
| 5 | Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg2+ Resorption | Science | 1999 | 1,042 |
| 6 | Corticosteroid Therapy for Critically Ill Patients with Middle East Respiratory Syndrome | American Journal of Respiratory and Critical Care Medicine | 2018 | 911 |
| 7 | Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2 | Nature Genetics | 1996 | 838 |
| 8 | Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III | Nature Genetics | 1997 | 812 |
| 9 | Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK | Nature Genetics | 1996 | 764 |
| 10 | Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency | Nature Genetics | 2003 | 720 |
| 11 | Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector | Lancet, The | 2004 | 636 |
| 12 | Current status of newborn screening worldwide: 2015 | Seminars in Perinatology | 2015 | 419 |
| 13 | Fungal Endocarditis: Evidence in the World Literature, 1965-1995 | Clinical Infectious Diseases | 2001 | 414 |
| 14 | Prognostic Factors in Heat Wave–Related Deaths<subtitle>A Meta-analysis</subtitle> | Archives of Internal Medicine | 2007 | 390 |
| 15 | Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus | Nature Genetics | 2011 | 366 |
| 16 | Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations | Science | 2015 | 366 |
| 17 | A mutation in sigma‐1 receptor causes juvenile amyotrophic lateral sclerosis | Annals of Neurology | 2011 | 359 |
| 18 | 14-3-3 protein homologs required for the DNA damage checkpoint in fission yeast | Science | 1994 | 344 |
| 19 | Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation | Blood | 2017 | 340 |
| 20 | Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism | Nature Genetics | 2006 | 327 |
| 21 | Prophylaxis and management of graft versus host disease after stem-cell transplantation for haematological malignancies: updated consensus recommendations of the European Society for Blood and Marrow Transplantation | Lancet Haematology,the | 2020 | 319 |
| 22 | Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery | Nature Genetics | 2016 | 314 |
| 23 | Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry | Pediatric Research | 1995 | 305 |
| 24 | New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism | Nature Genetics | 2013 | 293 |
| 25 | CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Nature Genetics | 1999 | 286 |
| 26 | DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients | Journal of Clinical Immunology | 2015 | 284 |
| 27 | Transmission and evolution of the Middle East respiratory syndrome coronavirus in Saudi Arabia: a descriptive genomic study | Lancet, The | 2013 | 282 |
| 28 | Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds | American Journal of Human Genetics | 2002 | 265 |
| 29 | Middle East Respiratory Syndrome Coronavirus (MERS-CoV) Infection: Chest CT Findings | American Journal of Roentgenology | 2014 | 254 |
| 30 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies | Nature Genetics | 2017 | 251 |
| 31 | The psychological impact of COVID-19 pandemic on health care workers in a MERS-CoV endemic country | Journal of Infection and Public Health | 2020 | 248 |
| 32 | Role of phosphatidylinositol 3′-kinase/AKT pathway in diffuse large B-cell lymphoma survival | Blood | 2006 | 241 |
| 33 | Spread, Circulation, and Evolution of the Middle East Respiratory Syndrome Coronavirus | MBio | 2014 | 235 |
| 34 | Rapid single-molecule detection of COVID-19 and MERS antigens via nanobody-functionalized organic electrochemical transistors | Nature Biomedical Engineering | 2021 | 235 |
| 35 | Initiation of sacubitril/valsartan in haemodynamically stabilised heart failure patients in hospital or early after discharge: primary results of the randomised TRANSITION study | European Journal of Heart Failure | 2019 | 233 |
| 36 | Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia | Nature Genetics | 2014 | 232 |
| 37 | Intraoperative facial motor evoked potential monitoring with transcranial electrical stimulation during skull base surgery | Clinical Neurophysiology | 2005 | 230 |
| 38 | Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome | Nature Genetics | 2011 | 229 |
| 39 | Impact of Accreditation on the Quality of Healthcare Services: a Systematic Review of the Literature | Annals of Saudi Medicine | 2011 | 226 |
| 40 | Inflammatory, hemostatic, and clinical changes in a baboon experimental model for heatstroke | Journal of Applied Physiology | 2005 | 222 |
| 41 | Treatment of Middle East Respiratory Syndrome with a combination of lopinavir-ritonavir and interferon-β1b (MIRACLE trial): study protocol for a randomized controlled trial | Trials | 2018 | 221 |
| 42 | Five- to nine-year follow-up results of balloon angioplasty of native aortic coarctation in infants and children | Journal of the American College of Cardiology | 1996 | 214 |
| 43 | The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases | Journal of Allergy and Clinical Immunology | 2008 | 214 |
| 44 | The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes | Human Genetics | 2017 | 209 |
| 45 | Ribavirin and Interferon Therapy for Critically Ill Patients With Middle East Respiratory Syndrome: A Multicenter Observational Study | Clinical Infectious Diseases | 2020 | 203 |
| 46 | Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial | Human Genetics | 2016 | 195 |
| 47 | Doxorubicin downregulates cell surface B7-H1 expression and upregulates its nuclear expression in breast cancer cells: role of B7-H1 as an anti-apoptotic molecule | Breast Cancer Research | 2010 | 191 |
| 48 | Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield | Molecular Psychiatry | 2017 | 187 |
| 49 | Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma | Science | 2011 | 186 |
| 50 | Monitoring Scoliosis Surgery With Combined Multiple Pulse Transcranial Electric Motor and Cortical Somatosensory-Evoked Potentials From the Lower and Upper Extremities | Spine | 2003 | 185 |
