| # | Title | Journal | Year | Citations |
|---|
| 1 | Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion | Human Mutation | 2000 | 1,688 |
| 2 | Human Gene Mutation Database (HGMD®): 2003 update | Human Mutation | 2003 | 1,571 |
| 3 | Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation | Human Mutation | 2009 | 1,528 |
| 4 | Impact of mutant p53 functional properties onTP53mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database | Human Mutation | 2007 | 1,441 |
| 5 | HGVS Recommendations for the Description of Sequence Variants: 2016 Update | Human Mutation | 2016 | 1,194 |
| 6 | GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene | Human Mutation | 2015 | 1,153 |
| 7 | The IARC TP53 database: New online mutation analysis and recommendations to users | Human Mutation | 2002 | 1,107 |
| 8 | Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models | Human Mutation | 2013 | 1,057 |
| 9 | Molecular genetics of the LDL receptor gene in familial hypercholesterolemia | Human Mutation | 1992 | 1,045 |
| 10 | Recommendations for a nomenclature system for human gene mutations | Human Mutation | 1998 | 936 |
| 11 | Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening | Human Mutation | 2002 | 904 |
| 12 | LOVD v.2.0: the next generation in gene variant databases | Human Mutation | 2011 | 854 |
| 13 | dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs | Human Mutation | 2016 | 845 |
| 14 | Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results | Human Mutation | 2008 | 782 |
| 15 | PTEN: One Gene, Many Syndromes | Human Mutation | 2003 | 729 |
| 16 | dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions | Human Mutation | 2011 | 706 |
| 17 | Denaturing high-performance liquid chromatography: A review | Human Mutation | 2001 | 674 |
| 18 | SNPs, protein structure, and disease | Human Mutation | 2001 | 649 |
| 19 | Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans | Human Mutation | 2007 | 620 |
| 20 | Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene | Human Mutation | 2008 | 591 |
| 21 | TP53Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data | Human Mutation | 2016 | 589 |
| 22 | An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) | Human Mutation | 2000 | 554 |
| 23 | Functional annotations improve the predictive score of human disease-related mutations in proteins | Human Mutation | 2009 | 552 |
| 24 | Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) | Human Mutation | 2008 | 551 |
| 25 | dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations | Human Mutation | 2013 | 546 |
| 26 | Identification and characterization of ANKK1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1 | Human Mutation | 2004 | 541 |
| 27 | Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype | Human Mutation | 1995 | 526 |
| 28 | Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion | Human Mutation | 2018 | 511 |
| 29 | The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations | Human Mutation | 2015 | 507 |
| 30 | Online Mendelian Inheritance In Man (OMIM) | Human Mutation | 2000 | 503 |
| 31 | Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations | Human Mutation | 2009 | 485 |
| 32 | Review and update of mutations causing Waardenburg syndrome | Human Mutation | 2010 | 481 |
| 33 | Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects | Human Mutation | 2000 | 477 |
| 34 | Performance of mutation pathogenicity prediction methods on missense variants | Human Mutation | 2011 | 468 |
| 35 | Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America | Human Mutation | 2009 | 466 |
| 36 | How sensitive is PCR-SSCP? | Human Mutation | 1993 | 458 |
| 37 | Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene | Human Mutation | 1998 | 452 |
| 38 | Oncotator: Cancer Variant Annotation Tool | Human Mutation | 2015 | 448 |
| 39 | Mutations inRYR1in malignant hyperthermia and central core disease | Human Mutation | 2006 | 444 |
| 40 | Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan | Human Mutation | 1996 | 436 |
| 41 | HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups | Human Mutation | 2011 | 433 |
| 42 | Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update | Human Mutation | 2010 | 428 |
| 43 | Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate | Human Mutation | 1994 | 425 |
| 44 | High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening | Human Mutation | 2009 | 414 |
| 45 | Locus‐specific mutation databases for neurodegenerative brain diseases | Human Mutation | 2012 | 414 |
| 46 | High-resolution DNA melting analysis: advancements and limitations | Human Mutation | 2009 | 407 |
| 47 | The genetic basis of long QT and short QT syndromes: A mutation update | Human Mutation | 2009 | 403 |
| 48 | Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia | Human Mutation | 2009 | 403 |
| 49 | HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server | Human Mutation | 2002 | 400 |
| 50 | GermlineTP53 mutations and Li-Fraumeni syndrome | Human Mutation | 2003 | 400 |
