| # | Title | Journal | Year | Citations |
|---|
| 1 | Genetic mechanisms of critical illness in COVID-19 | Nature | 2021 | 1,014 |
| 2 | The Human Phenotype Ontology in 2017 | Nucleic Acids Research | 2017 | 699 |
| 3 | Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci | Nature Genetics | 2018 | 652 |
| 4 | SARS-CoV-2 (COVID-19): What Do We Know About Children? A Systematic Review | Clinical Infectious Diseases | 2020 | 323 |
| 5 | The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | BMJ: British Medical Journal | 2018 | 312 |
| 6 | PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics | 2019 | 294 |
| 7 | Integrating Genomics into Healthcare: A Global Responsibility | American Journal of Human Genetics | 2019 | 264 |
| 8 | Making sense of big data in health research: Towards an EU action plan | Genome Medicine | 2016 | 190 |
| 9 | ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions | Bioinformatics | 2019 | 183 |
| 10 | Germline selection shapes human mitochondrial DNA diversity | Science | 2019 | 178 |
| 11 | Whole-genome sequencing reveals host factors underlying critical COVID-19 | Nature | 2022 | 174 |
| 12 | sRNAbench and sRNAtoolbox 2019: intuitive fast small RNA profiling and differential expression | Nucleic Acids Research | 2019 | 136 |
| 13 | Genetic Determinants of Drug Resistance in Mycobacterium tuberculosis and Their Diagnostic Value | American Journal of Respiratory and Critical Care Medicine | 2016 | 131 |
| 14 | Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project | Genetics in Medicine | 2018 | 125 |
| 15 | OMA standalone: orthology inference among public and custom genomes and transcriptomes | Genome Research | 2019 | 111 |
| 16 | GA4GH: International policies and standards for data sharing across genomic research and healthcare | Cell Genomics | 2021 | 94 |
| 17 | Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants | Nature Communications | 2018 | 88 |
| 18 | Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus | Nature Communications | 2019 | 88 |
| 19 | ClinVar database of global familial hypercholesterolemia‐associated DNA variants | Human Mutation | 2018 | 84 |
| 20 | Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL | Virchows Archiv Fur Pathologische Anatomie Und Physiologie Und Fur Klinische Medizin | 2017 | 82 |
| 21 | Opportunistic genomic screening. Recommendations of the European Society of Human Genetics | European Journal of Human Genetics | 2021 | 76 |
| 22 | Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans | Nature Communications | 2020 | 75 |
| 23 | Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study | Lancet Neurology, The | 2022 | 74 |
| 24 | Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals | American Journal of Human Genetics | 2021 | 72 |
| 25 | Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities | Annals of Neurology | 2020 | 70 |
| 26 | Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes | Nature | 2022 | 69 |
| 27 | The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources | Genetics in Medicine | 2022 | 56 |
| 28 | The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification | Genetics in Medicine | 2022 | 53 |
| 29 | Single-base substitutions in theCHMpromoter as a cause of choroideremia | Human Mutation | 2017 | 45 |
| 30 | Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy | JAMA Ophthalmology | 2017 | 43 |
| 31 | Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study | BMJ, The | 2021 | 42 |
| 32 | KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement | Journal of the Peripheral Nervous System | 2020 | 40 |
| 33 | Neuronal intranuclear inclusion disease is genetically heterogeneous | Annals of Clinical and Translational Neurology | 2020 | 38 |
| 34 | De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment | American Journal of Human Genetics | 2020 | 38 |
| 35 | Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution | American Journal of Human Genetics | 2021 | 36 |
| 36 | Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy | Genetics in Medicine | 2021 | 35 |
| 37 | The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors | European Journal of Human Genetics | 2017 | 32 |
| 38 | Return of individual research results from genomic research: A systematic review of stakeholder perspectives | PLoS ONE | 2021 | 32 |
| 39 | Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations | American Journal of Medical Genetics, Part A | 2022 | 32 |
| 40 | SMAD6 variants in craniosynostosis: genotype and phenotype evaluation | Genetics in Medicine | 2020 | 31 |
| 41 | Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer | Molecular Autism | 2019 | 30 |
| 42 | Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study | European Journal of Human Genetics | 2020 | 30 |
| 43 | The Deep Genome Project | Genome Biology | 2020 | 30 |
| 44 | Best practices in the real-world data life cycle | Genome Biology | 2022 | 29 |
| 45 | Clinical and genetic variability in children with partial albinism | Scientific Reports | 2019 | 26 |
| 46 | PharmGKB summary | Pharmacogenetics and Genomics | 2015 | 25 |
| 47 | A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations | American Journal of Human Genetics | 2017 | 23 |
| 48 | Missense variants in the X-linked genePRPS1cause retinal degeneration in females | Human Mutation | 2018 | 23 |
| 49 | Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders | Movement Disorders | 2021 | 23 |
| 50 | Quality assurance guidance for scoring and reporting for pathologists and laboratories undertaking clinical trial work | Journal of Pathology: Clinical Research | 2019 | 21 |
