| # | Title | Journal | Year | Citations |
|---|
| 1 | The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments | Clinical Chemistry | 2009 | 12,487 |
| 2 | qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data | Genome Biology | 2007 | 3,580 |
| 3 | The revised Ghent nosology for the Marfan syndrome | Journal of Medical Genetics | 2010 | 1,677 |
| 4 | A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 | Nature Genetics | 2005 | 1,543 |
| 5 | miR-9, a MYC/MYCN-activated microRNA, regulates E-cadherin and cancer metastasis | Nature Cell Biology | 2010 | 1,216 |
| 6 | Identification of ALK as a major familial neuroblastoma predisposition gene | Nature | 2008 | 1,207 |
| 7 | A comparison of single-cell trajectory inference methods | Nature Biotechnology | 2019 | 1,038 |
| 8 | A novel and universal method for microRNA RT-qPCR data normalization | Genome Biology | 2009 | 849 |
| 9 | Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome | Nature Genetics | 2003 | 764 |
| 10 | How to do successful gene expression analysis using real-time PCR | Methods | 2010 | 582 |
| 11 | Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI project | Nature Biotechnology | 2008 | 506 |
| 12 | RNA G-quadruplexes cause eIF4A-dependent oncogene translation in cancer | Nature | 2014 | 506 |
| 13 | HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle | Nature | 2012 | 488 |
| 14 | Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study | American Journal of Human Genetics | 2007 | 485 |
| 15 | 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 |
| 16 | Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation | American Journal of Human Genetics | 2007 | 445 |
| 17 | Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies | PLoS Genetics | 2010 | 414 |
| 18 | Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis | Nature Genetics | 2004 | 410 |
| 19 | Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin | Nature Genetics | 2005 | 367 |
| 20 | Trajectory-based differential expression analysis for single-cell sequencing data | Nature Communications | 2020 | 345 |
| 21 | Contrasting roles of histone 3 lysine 27 demethylases in acute lymphoblastic leukaemia | Nature | 2014 | 340 |
| 22 | Integrated Transcript and Genome Analyses Reveal NKX2-1 and MEF2C as Potential Oncogenes in T Cell Acute Lymphoblastic Leukemia | Cancer Cell | 2011 | 322 |
| 23 | Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database | Human Mutation | 2003 | 299 |
| 24 | Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families | Human Mutation | 2008 | 295 |
| 25 | Multisystem inflammatory syndrome in children related to COVID-19: a systematic review | European Journal of Pediatrics | 2021 | 286 |
| 26 | Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa | Human Molecular Genetics | 2002 | 283 |
| 27 | PHF6 mutations in T-cell acute lymphoblastic leukemia | Nature Genetics | 2010 | 282 |
| 28 | The miR-17-92 MicroRNA Cluster Regulates Multiple Components of the TGF-β Pathway in Neuroblastoma | Molecular Cell | 2010 | 279 |
| 29 | Accurate and objective copy number profiling using real-time quantitative PCR | Methods | 2010 | 273 |
| 30 | High-throughput stem-loop RT-qPCR miRNA expression profiling using minute amounts of input RNA | Nucleic Acids Research | 2008 | 261 |
| 31 | Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease | Annals of Thoracic Surgery | 2007 | 254 |
| 32 | CEP290, a gene with many faces: mutation overview and presentation of CEP290base | Human Mutation | 2010 | 245 |
| 33 | A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL) | Nature Genetics | 2011 | 244 |
| 34 | Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk | PLoS Genetics | 2013 | 244 |
| 35 | Meta-analysis of Neuroblastomas Reveals a Skewed ALK Mutation Spectrum in Tumors with MYCN Amplification | Clinical Cancer Research | 2010 | 243 |
| 36 | Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export | Nature Genetics | 2015 | 237 |
| 37 | FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders | Gene | 2016 | 230 |
| 38 | Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome | Journal of Medical Genetics | 2012 | 221 |
| 39 | Distinct transcriptional MYCN/c-MYC activities are associated with spontaneous regression or malignant progression in neuroblastomas | Genome Biology | 2008 | 215 |
| 40 | Comprehensive molecular screening of theFBN1gene favors locus homogeneity of classical Marfan syndrome | Human Mutation | 2004 | 210 |
| 41 | Elimination of Primer–Dimer Artifacts and Genomic Coamplification Using a Two-Step SYBR Green I Real-Time RT-PCR | Analytical Biochemistry | 2002 | 201 |
| 42 | Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy | PLoS Genetics | 2011 | 201 |
| 43 | Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients | Human Molecular Genetics | 2006 | 195 |
| 44 | Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome | Science Translational Medicine | 2010 | 195 |
| 45 | Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk | Mutation Research - Genetic Toxicology and Environmental Mutagenesis | 2007 | 194 |
| 46 | MicroRNA expression profiling to identify and validate reference genes for relative quantification in colorectal cancer | BMC Cancer | 2010 | 193 |
| 47 | Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms | Cell Reports | 2012 | 193 |
| 48 | Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection | Journal of the American College of Cardiology | 2018 | 190 |
| 49 | Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study | Lancet Oncology, The | 2009 | 176 |
| 50 | Emergence of New ALK Mutations at Relapse of Neuroblastoma | Journal of Clinical Oncology | 2014 | 176 |
