Nicholas Katsanis

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Publications in SciGraph latest 50 shown

  • 2018-12 A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features in HUMAN GENOMICS
  • 2018-12 Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome in SCIENTIFIC REPORTS
  • 2018-04 Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights in NATURE GENETICS
  • 2018 Bardet-Biedl Syndrome in POLYCYSTIC KIDNEY DISEASE
  • 2017-12 Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability in NATURE COMMUNICATIONS
  • 2017-12 Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome in HUMAN GENOMICS
  • 2017-12 BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1 in SCIENTIFIC REPORTS
  • 2017-02 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome in NATURE GENETICS
  • 2016-12 The continuum of causality in human genetic disorders in GENOME BIOLOGY
  • 2016-12 AMD and the alternative complement pathway: genetics and functional implications in HUMAN GENOMICS
  • 2016-11 Gene expression elucidates functional impact of polygenic risk for schizophrenia in NATURE NEUROSCIENCE
  • 2016-05-13 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms in NATURE COMMUNICATIONS
  • 2016-02 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants in NATURE GENETICS
  • 2015-12 Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics in CILIA
  • 2015-12 From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape in CILIA
  • 2015-08 Rapid and Efficient Generation of Transgene-Free iPSC from a Small Volume of Cryopreserved Blood in STEM CELL REVIEWS AND REPORTS
  • 2015-08 Identification of cis-suppression of human disease mutations by comparative genomics in NATURE
  • 2015-04 Loss of δ-catenin function in severe autism in NATURE
  • 2014-04 Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies in KIDNEY INTERNATIONAL
  • 2014-04 The role of a single olfactory receptor in odorant perception: relating receptor space to perceptual space in FLAVOUR
  • 2013-11 Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration in NATURE GENETICS
  • 2013-07 A functional variant in the CFI gene confers a high risk of age-related macular degeneration in NATURE GENETICS
  • 2013-06 Molecular genetic testing and the future of clinical genomics in NATURE REVIEWS GENETICS
  • 2013-04 Seven new loci associated with age-related macular degeneration in NATURE GENETICS
  • 2013 Next-Generation Sequencing of the Human Olfactory Receptors in OLFACTORY RECEPTORS
  • 2012-11 IFT and total mutational load in CILIA
  • 2012-11 SYSCILIA, “A systems biology approach to dissect cilia function and its disruption in human genetic disease” in CILIA
  • 2012-09 Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model in NATURE MEDICINE
  • 2012-05-16 KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant in NATURE
  • 2012-04 Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy in NATURE GENETICS
  • 2011-12 A rare penetrant mutation in CFH confers high risk of age-related macular degeneration in NATURE GENETICS
  • 2011-08 Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms in PEDIATRIC NEPHROLOGY
  • 2011-08 A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition in NATURE GENETICS
  • 2011-07 Neuroscience: Imprinting in the brain in NATURE
  • 2011-06 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes in NATURE GENETICS
  • 2011-05-05 DISC1-dependent switch from progenitor proliferation to migration in the developing cortex in NATURE
  • 2011-05 Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum in NATURE GENETICS
  • 2011-04 Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry in NATURE CELL BIOLOGY
  • 2011-04 Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-03 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum in NATURE GENETICS
  • 2011-01 Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals in HUMAN GENETICS
  • 2011-01 CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs in NATURE GENETICS
  • 2010-10 Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy in NATURE GENETICS
  • 2010-07 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes in NATURE GENETICS
  • 2010-05 Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease in HUMAN GENETICS
  • 2010 Oligogenic Disease in VOGEL AND MOTULSKY'S HUMAN GENETICS
  • 2009-06 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies in NATURE GENETICS
  • 2009-02 From association to causality: the new frontier for complex traits in GENOME MEDICINE
  • 2008-07 Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome in NATURE GENETICS
  • 2008-04 Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome in NATURE GENETICS
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