Nico Katsanis

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Articles in Scholarly Journals [Incomplete List]

  1. Recruitment of PCM1 to the Centrosome by the Cooperative Action of DISC1 and BBS4: A Candidate for Psychiatric Illnesses
    Archives of General Psychiatry, vol. 65, no. 9, pp. 996–1006, 2008
  2. CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
    The American Journal of Human Genetics, vol. 83, no. 5, pp. 559–571, 2008
  3. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
    Nature Genetics, vol. 40, no. 4, Article ID ng.97, 5 pages, 2008
  4. Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
    Nature Genetics, vol. 40, no. 7, Article ID ng0708-927b, 1 pages, 2008
  5. An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes
    PLoS Genetics, vol. 4, no. 3, p. e1000044, 2008
  6. Cell Polarization Defects in Early Heart Development
    Circulation Research, vol. 101, no. 2, pp. 122–124, 2007
  7. An Age-Old Problem
    PLoS Genetics, vol. 3, no. 2, p. e37, 2007
  8. Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture
    PLoS Genetics, vol. 3, no. 7, p. e119, 2007
  9. From the Cover: Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function
    Proceedings of the National Academy of Sciences, vol. 104, no. 44, pp. 17524–17529, 2007
  10. Bardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos?
    Ophthalmic Genetics, vol. 28, no. 2, pp. 95–99, 2007
  11. Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome
    The American Journal of Human Genetics, vol. 80, no. 1, pp. 1–11, 2007
  12. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
    Nature Genetics, vol. 39, no. 11, Article ID ng.2007.12, 10 pages, 2007
  13. Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome
    Vision Research, vol. 47, no. 27, pp. 3394–3407, 2007
  14. Ciliary proteins and exencephaly
    Nature Genetics, vol. 38, no. 2, Article ID ng0206-135, 1 pages, 2006
  15. The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia
    Nature Genetics, vol. 38, no. 9, Article ID ng0906-961, 1 pages, 2006
  16. Life without Centrioles: Cilia in the Spotlight
    Cell, vol. 125, no. 7, pp. 1228–1230, 2006
  17. The Emerging Complexity of the Vertebrate Cilium: New Functional Roles for an Ancient Organelle
    Developmental Cell, vol. 11, no. 1, pp. 9–19, 2006
  18. Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
    Human Genetics, vol. 120, no. 2, pp. 211–226, 2006
  19. Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
    Nature Genetics, vol. 38, no. 6, Article ID ng0606-721, 1 pages, 2006
  20. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
    Nature Genetics, vol. 38, no. 5, Article ID ng1771, 3 pages, 2006
  21. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
    Human Molecular Genetics, vol. 16, no. 2, pp. 173–186, 2006
  22. The Ciliopathies: An Emerging Class of Human Genetic Disorders
    Annual Review of Genomics and Human Genetics, vol. 7, no. 1, pp. 125–148, 2006
  23. Small molecule intervention in microtubule-associated human disease
    Human Molecular Genetics, vol. 14, no. suppl_2, pp. R291–R300, 2005
  24. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
    Journal of Cell Science, vol. 118, no. 5, pp. 1007–1020, 2005
  25. The centrosome in human genetic disease
    Nature Reviews Genetics, vol. 6, no. 3, Article ID nrg1557, 11 pages, 2005
  26. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study
    American Journal of Medical Genetics Part A, vol. 132A, no. 4, pp. 352–360, 2005
  27. Microtubule transport defects in neurological and ciliary disease
    Cellular and Molecular Life Sciences, vol. 62, no. 14, pp. 1556–1570, 2005
  28. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
    Nature Genetics, vol. 37, no. 3, Article ID ng1511, 6 pages, 2005
  29. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
    Nature Genetics, vol. 37, no. 10, Article ID ng1644, 5 pages, 2005
  30. A manually curated functional annotation of the human X chromosome
    Nature Genetics, vol. 37, no. 4, Article ID ng0405-331, 1 pages, 2005
  31. Dissection of epistasis in oligogenic Bardet–Biedl syndrome
    Nature, vol. 439, no. 7074, Article ID nature04370, 4 pages, 2005
  32. Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene
    Cell, vol. 117, no. 4, pp. 541–552, 2004
  33. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
    Nature Genetics, vol. 36, no. 5, Article ID ng1352, 8 pages, 2004
  34. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
    Nature Genetics, vol. 36, no. 9, Article ID ng1414, 4 pages, 2004
  35. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
    Nature Genetics, vol. 36, no. 9, Article ID ng1418, 4 pages, 2004
  36. Triallelic inheritance: a bridge between Mendelian and multifactorial traits
    Annals of Medicine, vol. 36, no. 4, pp. 262–272, 2004
  37. Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
    Genes & Development, vol. 18, no. 13, pp. 1630–1642, 2004
  38. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
    Human Molecular Genetics, vol. 12, no. 14, pp. 1651–1659, 2003
  39. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2
    The American Journal of Human Genetics, vol. 72, no. 3, pp. 650–658, 2003
  40. Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome
    The American Journal of Human Genetics, vol. 72, no. 5, pp. 1187–1199, 2003
  41. Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
    Nature, vol. 425, no. 6958, Article ID nature02030, 5 pages, 2003
  42. Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
    The American Journal of Human Genetics, vol. 70, no. 4, pp. 955–964, 2002
  43. BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance
    The American Journal of Human Genetics, vol. 71, no. 1, pp. 22–29, 2002
  44. A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes
    Proceedings of the National Academy of Sciences, vol. 99, no. 22, pp. 14326–14331, 2002
  45. Human genetics and disease: Beyond mendel: an evolving view of human genetic disease transmission
    Nature Reviews Genetics, vol. 3, no. 10, Article ID nrg910, 10 pages, 2002
  46. Exploring the molecular basis of Bardet-Biedl syndrome
    Human Molecular Genetics, vol. 10, no. 20, pp. 2293–2299, 2001
  47. Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci
    The American Journal of Human Genetics, vol. 68, no. 3, pp. 606–616, 2001
  48. The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes
    Genome Research, vol. 11, no. 6, pp. 1018–1033, 2001
  49. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
    Science, vol. 293, no. 5538, pp. 2256–2259, 2001
  50. Nature Genetics, vol. 29, no. 1, pp. 88–91, 2001
  51. Nature Genetics, vol. 26, no. 1, pp. 67–70, 2000
  52. Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13
    Human Genetics, vol. 106, no. 1, pp. 66–72, 2000
  53. Identification of novel genes expressed during metanephric induction through single-cell library screening
    Kidney International, vol. 57, no. 6, pp. 2221–2228, 2000
  54. Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees
    The American Journal of Human Genetics, vol. 65, no. 6, pp. 1672–1679, 1999
  55. High-resolution comparative physical mapping of mouse Chromosome 10 in the region of homology with human Chromosome 21
    Mammalian Genome, vol. 10, no. 3, pp. 229–234, 1999
  56. A Novel C-Terminal Binding Protein (CTBP2) Is Closely Related toCTBP1,an Adenovirus E1A-Binding Protein, and Maps to Human Chromosome 21q21.3
    Genomics, vol. 47, no. 2, pp. 294–299, 1998
  57. Identification, Expression, and Chromosomal Localization of Ubiquitin Conjugating Enzyme 7 (UBE2G2), a Human Homologue of theSaccharomyces cerevisiae Ubc7Gene
    Genomics, vol. 51, no. 1, pp. 128–131, 1998
  58. High Resolution Physical Mapping and Identification of Transcribed Sequences in the Down Syndrome Region-2,
    Biochemical and Biophysical Research Communications, vol. 243, no. 2, pp. 572–578, 1998
  59. Localisation of receptor interacting protein140 ( RIP140 ) within 100kb of D21S13 on 21q11, a gene-poor region of the human genome
    Human Genetics, vol. 102, no. 2, pp. 221–223, 1998
  60. Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 ( PRMT1 ) gene
    Mammalian Genome, vol. 8, no. 7, pp. 526–529, 1997
  61. Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21
    Human Genetics, vol. 100, no. 3-4, pp. 477–480, 1997
  62. The gene encoding the p60 subunit of chromatin assembly factor I ( CAF1P60 ) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome
    Human Genetics, vol. 98, no. 4, pp. 497–499, 1996
  63. Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation
    FEBS Letters, vol. 385, no. 3, pp. 185–188, 1996
  64. Paralogy Mapping: Identification of a Region in the Human MHC Triplicated onto Human Chromosomes 1 and 9 Allows the Prediction and Isolation of NovelPBXandNOTCHLoci
    Genomics, vol. 35, no. 1, pp. 101–108, 1996