| # | Title | Journal | Year | Citations |
|---|
| 1 | Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) | Autophagy | 2016 | 4,701 |
| 2 | Synaptic, transcriptional and chromatin genes disrupted in autism | Nature | 2014 | 2,254 |
| 3 | Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci | Nature Genetics | 2018 | 652 |
| 4 | Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial | Lancet, The | 2017 | 365 |
| 5 | Immunogenicity and reactogenicity of BNT162b2 booster in ChAdOx1-S-primed participants (CombiVacS): a multicentre, open-label, randomised, controlled, phase 2 trial | Lancet, The | 2021 | 316 |
| 6 | Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment | Genome Research | 2014 | 311 |
| 7 | Large-Scale Analysis of Association Between <emph type="ital">LRP5</emph> and <emph type="ital">LRP6</emph> Variants and Osteoporosis | JAMA - Journal of the American Medical Association | 2008 | 246 |
| 8 | Mutational spectrum in a worldwide study of 29,700 families withBRCA1orBRCA2mutations | Human Mutation | 2018 | 224 |
| 9 | A Consensus on the Diagnosis and Treatment of Acromegaly Comorbidities: An Update | Journal of Clinical Endocrinology and Metabolism | 2020 | 207 |
| 10 | Lipoic acid biosynthesis defects | Journal of Inherited Metabolic Disease | 2014 | 191 |
| 11 | Delivery of oligonucleotide‐based therapeutics: challenges and opportunities | EMBO Molecular Medicine | 2021 | 181 |
| 12 | Recruitment of glutathione into the nucleus during cell proliferation adjusts whole-cell redox homeostasis in Arabidopsis thaliana and lowers the oxidative defence shield | Plant Journal | 2010 | 174 |
| 13 | Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer | Gut | 2012 | 172 |
| 14 | Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients | International Journal of Pharmaceutics | 2019 | 171 |
| 15 | RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research | Journal of General Internal Medicine | 2014 | 159 |
| 16 | Role of nuclear glutathione as a key regulator of cell proliferation | Molecular Aspects of Medicine | 2009 | 152 |
| 17 | Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium | Human Molecular Genetics | 2011 | 152 |
| 18 | Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course | Movement Disorders | 2012 | 144 |
| 19 | Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutations | Human Mutation | 2009 | 140 |
| 20 | Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility | Nature Genetics | 2020 | 138 |
| 21 | The enigmatic role of tafazzin in cardiolipin metabolism | Biochimica Et Biophysica Acta - Biomembranes | 2009 | 135 |
| 22 | A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity | Radiotherapy and Oncology | 2014 | 128 |
| 23 | Clinical Practice Guidelines for Rare Diseases: The Orphanet Database | PLoS ONE | 2017 | 125 |
| 24 | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes | Nature Genetics | 2020 | 120 |
| 25 | Further development of forensic eye color predictive tests | Forensic Science International: Genetics | 2013 | 119 |
| 26 | Delivery is key: lessons learnt from developing splice‐switching antisense therapies | EMBO Molecular Medicine | 2017 | 119 |
| 27 | Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals | Gut | 2013 | 117 |
| 28 | Statin-induced myalgia and myositis: an update on pathogenesis and clinical recommendations | Expert Review of Clinical Immunology | 2018 | 112 |
| 29 | Ancestry Analysis in the 11-M Madrid Bomb Attack Investigation | PLoS ONE | 2009 | 110 |
| 30 | The mitochondrial ATP synthase is a shared drug target for aging and dementia | Aging Cell | 2018 | 109 |
| 31 | Oxidative Stress and Mitochondrial Dysfunction across Broad-Ranging Pathologies: Toward Mitochondria-Targeted Clinical Strategies | Oxidative Medicine and Cellular Longevity | 2014 | 108 |
| 32 | Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome | Biogerontology | 2010 | 106 |
| 33 | Cholesterol Regulates Syntaxin 6 Trafficking at trans-Golgi Network Endosomal Boundaries | Cell Reports | 2014 | 104 |
| 34 | Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel | Forensic Science International: Genetics | 2011 | 103 |
| 35 | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification | Human Mutation | 2019 | 102 |
| 36 | Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines | Journal of Inherited Metabolic Disease | 2015 | 100 |
| 37 | Radiogenomics: Radiobiology Enters the Era of Big Data and Team Science | International Journal of Radiation Oncology Biology Physics | 2014 | 99 |
| 38 | Snail1 Is a Transcriptional Effector of FGFR3 Signaling during Chondrogenesis and Achondroplasias | Developmental Cell | 2007 | 97 |
| 39 | Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium | Human Molecular Genetics | 2014 | 96 |
| 40 | SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access | BMC Bioinformatics | 2008 | 95 |
| 41 | KCNQ4 K+ channels tune mechanoreceptors for normal touch sensation in mouse and man | Nature Neuroscience | 2012 | 95 |
| 42 | Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing | Clinical Chemistry | 2014 | 95 |
| 43 | A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants atDPYDand a putative role forENOSF1rather thanTYMS | Gut | 2015 | 93 |
| 44 | Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics | Genetics in Medicine | 2020 | 92 |
| 45 | International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up | Journal of Inherited Metabolic Disease | 2019 | 91 |
| 46 | Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer | Nature Communications | 2019 | 90 |
| 47 | Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants | Nature Communications | 2018 | 88 |
| 48 | Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene | Neuromuscular Disorders | 2008 | 87 |
| 49 | Clinical implementation of RNA sequencing for Mendelian disease diagnostics | Genome Medicine | 2022 | 85 |
| 50 | A Multi-Institution Phase I Trial of Ruxolitinib in Patients with Chronic Myelomonocytic Leukemia (CMML) | Clinical Cancer Research | 2016 | 84 |
