# | Title | Journal | Year | Citations |
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1 | Delineation of prognostic biomarkers in prostate cancer | Nature | 2001 | 1,551 |
2 | The α(1,3)Fucosyltransferase Fuc-TVII Controls Leukocyte Trafficking through an Essential Role in L-, E-, and P-selectin Ligand Biosynthesis | Cell | 1996 | 704 |
3 | Functional Diversity, Conservation, and Convergence in the Evolution of the α-, β-, and γ-Carbonic Anhydrase Gene Families | Molecular Phylogenetics and Evolution | 1996 | 579 |
4 | LINE-1 Retrotransposition Activity in Human Genomes | Cell | 2010 | 531 |
5 | Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy | Nature Medicine | 2002 | 505 |
6 | Landscape of Intercellular Crosstalk in Healthy and NASH Liver Revealed by Single-Cell Secretome Gene Analysis | Molecular Cell | 2019 | 488 |
7 | DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene | Nature Genetics | 1998 | 483 |
8 | Expression of anti-DNA immunoglobulin transgenes in non-autoimmune mice | Nature | 1991 | 474 |
9 | LINE-1 Elements in Structural Variation and Disease | Annual Review of Genomics and Human Genetics | 2011 | 471 |
10 | DNA repair mediated by endonuclease-independent LINE-1 retrotransposition | Nature Genetics | 2002 | 440 |
11 | Haplotype Structure and Population Genetic Inferences from Nucleotide-Sequence Variation in Human Lipoprotein Lipase | American Journal of Human Genetics | 1998 | 439 |
12 | Genomic Deletions Created upon LINE-1 Retrotransposition | Cell | 2002 | 427 |
13 | Sodium channel mutations in epilepsy and other neurological disorders | Journal of Clinical Investigation | 2005 | 427 |
14 | Role of Ahch in gonadal development and gametogenesis | Nature Genetics | 1998 | 420 |
15 | The carbonic anhydrases: Widening perspectives on their evolution, expression and function | BioEssays | 1989 | 407 |
16 | Mutation of the Ca2+ Channel β Subunit Gene Cchb4 Is Associated with Ataxia and Seizures in the Lethargic (lh) Mouse | Cell | 1997 | 394 |
17 | cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product | Genomics | 1991 | 384 |
18 | Apolipoprotein E Variation at the Sequence Haplotype Level: Implications for the Origin and Maintenance of a Major Human Polymorphism | American Journal of Human Genetics | 2000 | 377 |
19 | Treatment of metastatic cancer with tetrathiomolybdate, an anticopper, antiangiogenic agent: Phase I study | Clinical Cancer Research | 2000 | 339 |
20 | The developmental pattern of Brca1 expression implies a role in differentiation of the breast and other tissues | Nature Genetics | 1995 | 328 |
21 | Identification and Characterization of the Dystrophin Anchoring Site on β-Dystroglycan | Journal of Biological Chemistry | 1995 | 295 |
22 | Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’ | Nature Genetics | 1995 | 286 |
23 | Treatment of Wilson Disease With Ammonium Tetrathiomolybdate | Archives of Neurology | 2006 | 283 |
24 | Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity | Nature | 1993 | 280 |
25 | The “Thrifty Genotype” in 19981 | Nutrition Reviews | 1999 | 278 |
26 | The site and stage of anti-DNA B-cell deletion | Nature | 1995 | 272 |
27 | Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice | Human Molecular Genetics | 1995 | 270 |
28 | New Lymphocyte Antigen System (Lna) Controlled by the Ir Region of the Mouse H-2 Complex | Proceedings of the National Academy of Sciences of the United States of America | 1973 | 264 |
29 | Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor V | Nature | 1996 | 260 |
30 | Ribosomal protein L24 defect in Belly spot and tail (Bst), a mouse Minute | Development (Cambridge) | 2004 | 260 |
31 | Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity | Molecular Psychiatry | 2015 | 257 |
32 | Multiple Fates of L1 Retrotransposition Intermediates in Cultured Human Cells | Molecular and Cellular Biology | 2005 | 255 |
33 | The costs of human inbreeding and their implications for variations at the DNA level | Nature Genetics | 1994 | 244 |
34 | Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation | Human Molecular Genetics | 1997 | 243 |
35 | Analysis of the vestigial tail mutation demonstrates that Wnt-3a gene dosage regulates mouse axial development. | Genes and Development | 1996 | 240 |
36 | Structure and variation of human ribosomal DNA: molecular analysis of cloned fragments | Gene | 1981 | 239 |
37 | The Influence of LINE-1 and SINE Retrotransposons on Mammalian Genomes | Microbiology Spectrum | 2015 | 236 |
38 | Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization. | Journal of Clinical Investigation | 1994 | 236 |
39 | Treatment of Wilson Disease With Ammonium Tetrathiomolybdate | Archives of Neurology | 2003 | 235 |
40 | Type II Diabetes, Essential Hypertension, and Obesity as "Syndromes of Impaired Genetic Homeostasis": The "Thrifty Genotype" Hypothesis Enters the 21st Century | Perspectives in Biology and Medicine | 1998 | 234 |
41 | Discovery of unfixed endogenous retrovirus insertions in diverse human populations | Proceedings of the National Academy of Sciences of the United States of America | 2016 | 225 |
42 | The Neonatal and Adult Human Testis Defined at the Single-Cell Level | Cell Reports | 2019 | 224 |
43 | Evolutionary Health Promotion | Preventive Medicine | 2002 | 218 |
44 | The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation | Genomics | 1990 | 213 |
45 | Deep resequencing reveals excess rare recent variants consistent with explosive population growth | Nature Communications | 2010 | 213 |
46 | Changes in Cystic Fibrosis Airway Microbiota at Pulmonary Exacerbation | Annals of the American Thoracic Society | 2013 | 210 |
47 | Characterization of LINE-1 Ribonucleoprotein Particles | PLoS Genetics | 2010 | 208 |
48 | A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse | Nature Genetics | 1994 | 207 |
49 | Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein | American Journal of Human Genetics | 2009 | 206 |
50 | Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network | Science | 2017 | 206 |