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Top Articles

#TitleJournalYearCitations
1Delineation of prognostic biomarkers in prostate cancerNature20011,551
2The α(1,3)Fucosyltransferase Fuc-TVII Controls Leukocyte Trafficking through an Essential Role in L-, E-, and P-selectin Ligand BiosynthesisCell1996704
3Functional Diversity, Conservation, and Convergence in the Evolution of the α-, β-, and γ-Carbonic Anhydrase Gene FamiliesMolecular Phylogenetics and Evolution1996579
4LINE-1 Retrotransposition Activity in Human GenomesCell2010531
5Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophyNature Medicine2002505
6Landscape of Intercellular Crosstalk in Healthy and NASH Liver Revealed by Single-Cell Secretome Gene AnalysisMolecular Cell2019488
7DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase geneNature Genetics1998483
8Expression of anti-DNA immunoglobulin transgenes in non-autoimmune miceNature1991474
9LINE-1 Elements in Structural Variation and DiseaseAnnual Review of Genomics and Human Genetics2011471
10DNA repair mediated by endonuclease-independent LINE-1 retrotranspositionNature Genetics2002440
11Haplotype Structure and Population Genetic Inferences from Nucleotide-Sequence Variation in Human Lipoprotein LipaseAmerican Journal of Human Genetics1998439
12Genomic Deletions Created upon LINE-1 RetrotranspositionCell2002427
13Sodium channel mutations in epilepsy and other neurological disordersJournal of Clinical Investigation2005427
14Role of Ahch in gonadal development and gametogenesisNature Genetics1998420
15The carbonic anhydrases: Widening perspectives on their evolution, expression and functionBioEssays1989407
16Mutation of the Ca2+ Channel β Subunit Gene Cchb4 Is Associated with Ataxia and Seizures in the Lethargic (lh) MouseCell1997394
17cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene productGenomics1991384
18Apolipoprotein E Variation at the Sequence Haplotype Level: Implications for the Origin and Maintenance of a Major Human PolymorphismAmerican Journal of Human Genetics2000377
19Treatment of metastatic cancer with tetrathiomolybdate, an anticopper, antiangiogenic agent: Phase I studyClinical Cancer Research2000339
20The developmental pattern of Brca1 expression implies a role in differentiation of the breast and other tissuesNature Genetics1995328
21Identification and Characterization of the Dystrophin Anchoring Site on β-DystroglycanJournal of Biological Chemistry1995295
22Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’Nature Genetics1995286
23Treatment of Wilson Disease With Ammonium TetrathiomolybdateArchives of Neurology2006283
24Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicityNature1993280
25The “Thrifty Genotype” in 19981Nutrition Reviews1999278
26The site and stage of anti-DNA B-cell deletionNature1995272
27Expression of full-length and truncated dystrophin mini-genes in transgenic mdx miceHuman Molecular Genetics1995270
28New Lymphocyte Antigen System (Lna) Controlled by the Ir Region of the Mouse H-2 ComplexProceedings of the National Academy of Sciences of the United States of America1973264
29Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor VNature1996260
30Ribosomal protein L24 defect in Belly spot and tail (Bst), a mouse MinuteDevelopment (Cambridge)2004260
31Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneityMolecular Psychiatry2015257
32Multiple Fates of L1 Retrotransposition Intermediates in Cultured Human CellsMolecular and Cellular Biology2005255
33The costs of human inbreeding and their implications for variations at the DNA levelNature Genetics1994244
34Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formationHuman Molecular Genetics1997243
35Analysis of the vestigial tail mutation demonstrates that Wnt-3a gene dosage regulates mouse axial development.Genes and Development1996240
36Structure and variation of human ribosomal DNA: molecular analysis of cloned fragmentsGene1981239
37The Influence of LINE-1 and SINE Retrotransposons on Mammalian GenomesMicrobiology Spectrum2015236
38Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization.Journal of Clinical Investigation1994236
39Treatment of Wilson Disease With Ammonium TetrathiomolybdateArchives of Neurology2003235
40Type II Diabetes, Essential Hypertension, and Obesity as "Syndromes of Impaired Genetic Homeostasis": The "Thrifty Genotype" Hypothesis Enters the 21st CenturyPerspectives in Biology and Medicine1998234
41Discovery of unfixed endogenous retrovirus insertions in diverse human populationsProceedings of the National Academy of Sciences of the United States of America2016225
42The Neonatal and Adult Human Testis Defined at the Single-Cell LevelCell Reports2019224
43Evolutionary Health PromotionPreventive Medicine2002218
44The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutationGenomics1990213
45Deep resequencing reveals excess rare recent variants consistent with explosive population growthNature Communications2010213
46Changes in Cystic Fibrosis Airway Microbiota at Pulmonary ExacerbationAnnals of the American Thoracic Society2013210
47Characterization of LINE-1 Ribonucleoprotein ParticlesPLoS Genetics2010208
48A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouseNature Genetics1994207
49Human Male Infertility Caused by Mutations in the CATSPER1 Channel ProteinAmerican Journal of Human Genetics2009206
50Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism NetworkScience2017206