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Top Articles

#TitleJournalYearCitations
1Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)Autophagy20164,103
2Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation CarriersJAMA - Journal of the American Medical Association20172,080
3Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1Autophagy20212,079
4Inborn errors of type I IFN immunity in patients with life-threatening COVID-19Science20201,545
5Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer InteractionsCell20151,432
6Transcriptome and genome sequencing uncovers functional variation in humansNature20131,347
7Common variants conferring risk of schizophreniaNature20091,218
8Programmed Cell Senescence during Mammalian Embryonic DevelopmentCell20131,047
9Association analysis identifies 65 new breast cancer risk lociNature20171,029
10Molecular mechanisms of micronucleus, nucleoplasmic bridge and nuclear bud formation in mammalian and human cellsMutagenesis2011903
11Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fractureNature Genetics2012902
12Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fractionEuropean Heart Journal2015872
13Large-scale genotyping identifies 41 new loci associated with breast cancer riskNature Genetics2013797
14Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer SubtypesAmerican Journal of Human Genetics2019724
15Consensus on diagnosis and management of Cushing's disease: a guideline updateLancet Diabetes and Endocrinology,the2021665
16Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility lociNature Genetics2018620
17Circulating urokinase receptor as a cause of focal segmental glomerulosclerosisNature Medicine2011604
18Exercise benefits in cardiovascular disease: beyond attenuation of traditional risk factorsNature Reviews Cardiology2018598
19The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy MutationsHuman Mutation2015546
20Reconstructing Native American population historyNature2012528
21Genome-wide Analyses Identify KIF5A as a Novel ALS GeneNeuron2018523
22Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaOrphanet Journal of Rare Diseases2014474
23Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working GroupAllergy: European Journal of Allergy and Clinical Immunology2014474
24Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cellsNature2009458
25An overview of STRUCTURE: applications, parameter settings, and supporting softwareFrontiers in Genetics2013448
26Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancerNature Genetics2015441
27Detectable clonal mosaicism and its relationship to aging and cancerNature Genetics2012433
28Reference ranges for uterine artery mean pulsatility index at 11–41 weeks of gestationUltrasound in Obstetrics and Gynecology2008430
29Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deathsScience Immunology2021427
30Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosisNature Genetics2016422
31Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarcheNature2014415
32Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancerNature Genetics2013410
33Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statementNature Reviews Endocrinology2018409
34Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer riskNature Genetics2017407
35A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3Nature Genetics2008404
36Role of Mitochondrial Reverse Electron Transport in ROS Signaling: Potential Roles in Health and DiseaseFrontiers in Physiology2017402
37Suggested guidelines for the diagnosis and management of urea cycle disordersOrphanet Journal of Rare Diseases2012401
38Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing lossNature Genetics2009393
39Diagnosis and treatment of basal cell carcinoma: European consensus–based interdisciplinary guidelinesEuropean Journal of Cancer2019381
40Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported casesNeuromuscular Disorders2018380
41Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian CancerJAMA - Journal of the American Medical Association2015377
42Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancerNature Genetics2017367
43NLRP3 inflammasome is activated in mononuclear blood cells from patients with major depressive disorderBrain, Behavior, and Immunity2014362
44Suggested guidelines for the diagnosis and management of urea cycle disorders: First revisionJournal of Inherited Metabolic Disease2019357
45Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytomaNature Genetics2011356
46Effects of Sex, Strain, and Energy Intake on Hallmarks of Aging in MiceCell Metabolism2016342
47Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialLancet, The2017342
483D bioprinting of functional human skin: production and in vivo analysisBiofabrication2017335
49Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)Journal of Medical Genetics2014332
50Deficient Endoplasmic Reticulum-Mitochondrial Phosphatidylserine Transfer Causes Liver DiseaseCell2019330