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DONNA MUZNY to Genomics

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This is a "connection" page, showing publications DONNA MUZNY has written about Genomics.
DONNA MUZNY
Connection Strength
2.390
Genomics
  1. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
    View in: PubMed
    Score: 0.108
  2. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 10; 23(10):1838-1846.
    View in: PubMed
    Score: 0.106
  3. Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions. Genome Biol. 2021 04 16; 22(1):109.
    View in: PubMed
    Score: 0.105
  4. Molecular Features of Cancers Exhibiting Exceptional Responses to Treatment. Cancer Cell. 2021 01 11; 39(1):38-53.e7.
    View in: PubMed
    Score: 0.102
  5. High-depth African genomes inform human migration and health. Nature. 2020 10; 586(7831):741-748.
    View in: PubMed
    Score: 0.101
  6. Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol). Int J Epidemiol. 2020 02 01; 49(1):23-24k.
    View in: PubMed
    Score: 0.096
  7. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
    View in: PubMed
    Score: 0.092
  8. The comparative genomics and complex population history of Papio baboons. Sci Adv. 2019 01; 5(1):eaau6947.
    View in: PubMed
    Score: 0.090
  9. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
    View in: PubMed
    Score: 0.090
  10. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017 Oct 03; 18(Suppl 6):691.
    View in: PubMed
    Score: 0.082
  11. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
    View in: PubMed
    Score: 0.079
  12. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 11 01; 8(1):105.
    View in: PubMed
    Score: 0.077
  13. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066.
    View in: PubMed
    Score: 0.074
  14. Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep. 2016 Mar 15; 14(10):2476-89.
    View in: PubMed
    Score: 0.073
  15. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015 Mar 19; 16:214.
    View in: PubMed
    Score: 0.069
  16. Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. PLoS One. 2014; 9(10):e110740.
    View in: PubMed
    Score: 0.067
  17. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014 Jan 29; 15:30.
    View in: PubMed
    Score: 0.063
  18. The Drosophila melanogaster Genetic Reference Panel. Nature. 2012 Feb 08; 482(7384):173-8.
    View in: PubMed
    Score: 0.055
  19. Comparative genomics of Gardnerella vaginalis strains reveals substantial differences in metabolic and virulence potential. PLoS One. 2010 Aug 26; 5(8):e12411.
    View in: PubMed
    Score: 0.050
  20. Genomics. Genome project standards in a new era of sequencing. Science. 2009 Oct 09; 326(5950):236-7.
    View in: PubMed
    Score: 0.047
  21. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
    View in: PubMed
    Score: 0.042
  22. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 Jun 14; 447(7146):799-816.
    View in: PubMed
    Score: 0.040
  23. The genome of the social amoeba Dictyostelium discoideum. Nature. 2005 May 05; 435(7038):43-57.
    View in: PubMed
    Score: 0.035
  24. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
    View in: PubMed
    Score: 0.034
  25. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 04 01; 428(6982):493-521.
    View in: PubMed
    Score: 0.032
  26. The genomic landscape of familial glioma. Sci Adv. 2023 04 28; 9(17):eade2675.
    View in: PubMed
    Score: 0.030
  27. Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program. Genome Med. 2022 03 28; 14(1):34.
    View in: PubMed
    Score: 0.028
  28. Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 02 15; 11.
    View in: PubMed
    Score: 0.028
  29. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
    View in: PubMed
    Score: 0.024
  30. Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome. J Mol Diagn. 2019 05; 21(3):449-461.
    View in: PubMed
    Score: 0.023
  31. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573.
    View in: PubMed
    Score: 0.022
  32. The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water. BMC Genomics. 2018 Nov 21; 19(1):832.
    View in: PubMed
    Score: 0.022
  33. Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series. Neuro Oncol. 2018 11 12; 20(12):1625-1633.
    View in: PubMed
    Score: 0.022
  34. Comparative genomics of the miniature wasp and pest control agent Trichogramma pretiosum. BMC Biol. 2018 05 18; 16(1):54.
    View in: PubMed
    Score: 0.021
  35. Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018 01 03; 553(7686):77-81.
    View in: PubMed
    Score: 0.021
  36. Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet. 2017 02 02; 100(2):205-215.
    View in: PubMed
    Score: 0.019
  37. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
    View in: PubMed
    Score: 0.019
  38. Genomic profiling of S?zary syndrome identifies alterations of key T cell signaling and differentiation genes. Nat Genet. 2015 Dec; 47(12):1426-34.
    View in: PubMed
    Score: 0.018
  39. An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 01; 526(7571):75-81.
    View in: PubMed
    Score: 0.018
  40. Genomic signatures of cooperation and conflict in the social amoeba. Curr Biol. 2015 Jun 15; 25(12):1661-5.
    View in: PubMed
    Score: 0.017
  41. The genomes of two key bumblebee species with primitive eusocial organization. Genome Biol. 2015 Apr 24; 16:76.
    View in: PubMed
    Score: 0.017
  42. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
    View in: PubMed
    Score: 0.017
  43. Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clin Cancer Res. 2014 Dec 15; 20(24):6582-92.
    View in: PubMed
    Score: 0.017
  44. Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):335-43.
    View in: PubMed
    Score: 0.016
  45. Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):344-9.
    View in: PubMed
    Score: 0.016
  46. ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):350-8.
    View in: PubMed
    Score: 0.016
  47. Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):359-64.
    View in: PubMed
    Score: 0.016
  48. Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Circ Cardiovasc Genet. 2014 Jun; 7(3):365-73.
    View in: PubMed
    Score: 0.016
  49. Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):374-382.
    View in: PubMed
    Score: 0.016
  50. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 Oct 04; 342(6154):1235587.
    View in: PubMed
    Score: 0.016
  51. Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nat Genet. 2013 Aug; 45(8):899-901.
    View in: PubMed
    Score: 0.015
  52. Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discov. 2013 Jul; 3(7):770-81.
    View in: PubMed
    Score: 0.015
  53. Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. BMC Med Genomics. 2012 Feb 21; 5:7.
    View in: PubMed
    Score: 0.014
  54. A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 2011 Oct 12; 478(7370):476-82.
    View in: PubMed
    Score: 0.014
  55. Large scale variation in Enterococcus faecalis illustrated by the genome analysis of strain OG1RF. Genome Biol. 2008; 9(7):R110.
    View in: PubMed
    Score: 0.011
  56. Complete genome sequence of Rickettsia typhi and comparison with sequences of other rickettsiae. J Bacteriol. 2004 Sep; 186(17):5842-55.
    View in: PubMed
    Score: 0.008
  57. Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 Dec 05; 420(6915):520-62.
    View in: PubMed
    Score: 0.007
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