| # | Title | Journal | Year | Citations |
|---|
| 1 | Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) | Autophagy | 2016 | 4,701 |
| 2 | Clues to the pathogenesis of familial colorectal cancer | Science | 1993 | 2,563 |
| 3 | Mutation of a mutL homolog in hereditary colon cancer | Science | 1994 | 1,821 |
| 4 | Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer | Nature | 1994 | 1,523 |
| 5 | A serine/threonine kinase gene defective in Peutz–Jeghers syndrome | Nature | 1998 | 1,451 |
| 6 | A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline | Nature | 2012 | 1,442 |
| 7 | Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene | Nature Genetics | 1995 | 1,183 |
| 8 | Cancer risk in mutation carriers of DNA-mismatch-repair genes | | 1999 | 1,061 |
| 9 | Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease | New England Journal of Medicine | 1998 | 1,048 |
| 10 | Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure | Cell | 1995 | 901 |
| 11 | Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients | Nature Medicine | 1996 | 892 |
| 12 | The sex-determining region of the human Y chromosome encodes a finger protein | Cell | 1987 | 881 |
| 13 | Multiple common variants for celiac disease influencing immune gene expression | Nature Genetics | 2010 | 871 |
| 14 | Genetic mapping of a locus predisposing to human colorectal cancer | Science | 1993 | 846 |
| 15 | Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability | Nature Genetics | 1995 | 759 |
| 16 | X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein | Nature Genetics | 1996 | 691 |
| 17 | Genome-wide association analysis of metabolic traits in a birth cohort from a founder population | Nature Genetics | 2009 | 676 |
| 18 | Colorectal Cancer: Evidence for Distinct Genetic Categories Based on Proximal or Distal Tumor Location | Annals of Internal Medicine | 1990 | 642 |
| 19 | Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome | American Journal of Human Genetics | 2002 | 636 |
| 20 | Role of DNA Mismatch Repair Defects in the Pathogenesis of Human Cancer | Journal of Clinical Oncology | 2003 | 626 |
| 21 | Inherited susceptibility to uterine leiomyomas and renal cell cancer | Proceedings of the National Academy of Sciences of the United States of America | 2001 | 604 |
| 22 | Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus | Nature Genetics | 2007 | 590 |
| 23 | Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (hnpcc) syndrome | International Journal of Cancer | 1995 | 560 |
| 24 | MED12 , the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas | Science | 2011 | 547 |
| 25 | Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland | Nature Genetics | 1992 | 544 |
| 26 | Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus | American Journal of Human Genetics | 2005 | 526 |
| 27 | The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover | Science | 2005 | 524 |
| 28 | Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility | Nature Genetics | 1997 | 509 |
| 29 | Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels | Journal of Experimental Medicine | 2005 | 498 |
| 30 | Loss-of-Function Mutations in PPARγ Associated with Human Colon Cancer | Molecular Cell | 1999 | 485 |
| 31 | Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients | Cancer Research | 1994 | 463 |
| 32 | Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia | Cell | 2001 | 461 |
| 33 | Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis | Nature Genetics | 1997 | 444 |
| 34 | Tumour markers in colorectal cancer: European Group on Tumour Markers (EGTM) guidelines for clinical use | European Journal of Cancer | 2007 | 437 |
| 35 | Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts | Nature Genetics | 2000 | 436 |
| 36 | Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome | Cancer Research | 1993 | 421 |
| 37 | Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database | Disease Markers | 2004 | 416 |
| 38 | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database | Nature Genetics | 2014 | 410 |
| 39 | Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin | American Journal of Human Genetics | 2002 | 408 |
| 40 | Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder | American Journal of Human Genetics | 2003 | 400 |
| 41 | Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea | Nature Genetics | 1996 | 394 |
| 42 | Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy | Nature Genetics | 1999 | 389 |
| 43 | Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. | Proceedings of the National Academy of Sciences of the United States of America | 1993 | 370 |
| 44 | Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma | American Journal of Human Genetics | 2004 | 367 |
| 45 | A deletion in chromosome 22 can cause digeorge syndrome | Human Genetics | 1981 | 363 |
| 46 | Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders | PLoS Genetics | 2012 | 358 |
| 47 | A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function | Nature Genetics | 2009 | 355 |
| 48 | Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy | Nature Genetics | 2007 | 353 |
| 49 | Cancer Risk in Hereditary Nonpolyposis Colorectal Cancer Syndrome: Later Age of Onset | Gastroenterology | 2005 | 338 |
| 50 | Mutations in BRIP1 confer high risk of ovarian cancer | Nature Genetics | 2011 | 338 |
