| # | Title | Journal | Year | Citations |
|---|
| 1 | Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies | American Journal of Human Genetics | 2010 | 2,325 |
| 2 | Angiotensin-converting enzyme 2 (ACE2) as a SARS-CoV-2 receptor: molecular mechanisms and potential therapeutic target | Intensive Care Medicine | 2020 | 2,071 |
| 3 | Inhibition of SARS-CoV-2 Infections in Engineered Human Tissues Using Clinical-Grade Soluble Human ACE2 | Cell | 2020 | 1,827 |
| 4 | Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 | Nature | 2006 | 1,816 |
| 5 | The clonal and mutational evolution spectrum of primary triple-negative breast cancers | Nature | 2012 | 1,778 |
| 6 | Structural Variation of Chromosomes in Autism Spectrum Disorder | American Journal of Human Genetics | 2008 | 1,641 |
| 7 | Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi | Nature | 2009 | 1,433 |
| 8 | Deletion of a DNA polymerase beta gene segment in T cells using cell type-specific gene targeting | Science | 1994 | 1,376 |
| 9 | Mutations inGNA11in Uveal Melanoma | New England Journal of Medicine | 2010 | 1,312 |
| 10 | JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework | Nucleic Acids Research | 2018 | 1,232 |
| 11 | Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture | Nature Genetics | 2012 | 1,100 |
| 12 | Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program | Nature | 2021 | 1,069 |
| 13 | JASPAR 2020: update of the open-access database of transcription factor binding profiles | Nucleic Acids Research | 2020 | 1,039 |
| 14 | Applied bioinformatics for the identification of regulatory elements | Nature Reviews Genetics | 2004 | 1,032 |
| 15 | Huntington disease | Nature Reviews Disease Primers | 2015 | 1,031 |
| 16 | The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease | Nature Genetics | 1993 | 1,002 |
| 17 | JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles | Nucleic Acids Research | 2016 | 968 |
| 18 | JASPAR 2022: the 9th release of the open-access database of transcription factor binding profiles | Nucleic Acids Research | 2022 | 902 |
| 19 | Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis | Nature Genetics | 2004 | 900 |
| 20 | Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data | Lancet Neurology, The | 2009 | 856 |
| 21 | Ten things you should know about transposable elements | Genome Biology | 2018 | 817 |
| 22 | Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes | Nature Genetics | 2003 | 807 |
| 23 | Guidelines for the use of flow cytometry and cell sorting in immunological studies (second edition) | European Journal of Immunology | 2019 | 766 |
| 24 | Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes | Cell | 1995 | 758 |
| 25 | VPS35 Mutations in Parkinson Disease | American Journal of Human Genetics | 2011 | 747 |
| 26 | A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length | Clinical Genetics | 2004 | 738 |
| 27 | Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study | Lancet, The | 2002 | 717 |
| 28 | Vitamin C induces Tet-dependent DNA demethylation and a blastocyst-like state in ES cells | Nature | 2013 | 715 |
| 29 | Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease | Human Molecular Genetics | 2003 | 713 |
| 30 | Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data | Lancet Neurology, The | 2013 | 704 |
| 31 | Proviral silencing in embryonic stem cells requires the histone methyltransferase ESET | Nature | 2010 | 681 |
| 32 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | Nature Genetics | 2012 | 621 |
| 33 | Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S | Teratology | 1980 | 609 |
| 34 | Cleavage at the Caspase-6 Site Is Required for Neuronal Dysfunction and Degeneration Due to Mutant Huntingtin | Cell | 2006 | 600 |
| 35 | The current landscape of nucleic acid therapeutics | Nature Nanotechnology | 2021 | 578 |
| 36 | Consensus Paper: Pathological Role of the Cerebellum in Autism | Cerebellum | 2012 | 577 |
| 37 | A Worldwide Study of the Huntington's Disease Mutation: The Sensitivity and Specificity of Measuring CAG Repeats | New England Journal of Medicine | 1994 | 563 |
| 38 | Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation | Blood | 2011 | 556 |
| 39 | Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract | Nature Genetics | 1996 | 545 |
| 40 | Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease | Movement Disorders | 2013 | 545 |
| 41 | Dynamics of genomic clones in breast cancer patient xenografts at single-cell resolution | Nature | 2015 | 545 |
| 42 | Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis | Lancet Neurology, The | 2011 | 530 |
| 43 | JASPAR 2010: the greatly expanded open-access database of transcription factor binding profiles | Nucleic Acids Research | 2010 | 529 |
| 44 | A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 | Nature Genetics | 2010 | 518 |
| 45 | Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy | Nature Genetics | 2011 | 502 |
| 46 | Depression and multiple sclerosis | Neurology | 1996 | 498 |
| 47 | Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database | PLoS Genetics | 2012 | 495 |
| 48 | Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germlineCDH1mutation carriers | Journal of Medical Genetics | 2015 | 479 |
| 49 | Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children | Pediatrics | 2000 | 476 |
| 50 | An integrated expression atlas of miRNAs and their promoters in human and mouse | Nature Biotechnology | 2017 | 456 |
