Garry R Cutting

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Garry R



Publications in SciGraph latest 50 shown

  • 2018-12 Improving imputation in disease-relevant regions: lessons from cystic fibrosis in NPJ GENOMIC MEDICINE
  • 2017-05-25 Corrigendum: Novel variation at chr11p13 associated with cystic fibrosis lung disease severity in HUMAN GENOME VARIATION
  • 2016-12 Novel variation at chr11p13 associated with cystic fibrosis lung disease severity in HUMAN GENOME VARIATION
  • 2016-12 Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator in CELLULAR & MOLECULAR BIOLOGY LETTERS
  • 2016-12 Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits in HUMAN GENOME VARIATION
  • 2016-02 Bias in CFTR screening panels in GENETICS IN MEDICINE
  • 2015-12 Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis in NATURE COMMUNICATIONS
  • 2015-01 Cystic fibrosis genetics: from molecular understanding to clinical application in NATURE REVIEWS GENETICS
  • 2014-12 The microbiome in pediatric cystic fibrosis patients: the role of shared environment suggests a window of intervention in MICROBIOME
  • 2014-12 Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study in BMC PULMONARY MEDICINE
  • 2013-10 Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene in NATURE GENETICS
  • 2012-05 Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis in NATURE GENETICS
  • 2011-12 Mutation (variation) databases and registries: a rationale for coordination of efforts in NATURE REVIEWS GENETICS
  • 2011-06 Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 in NATURE GENETICS
  • 2011-04-11 Evaluation of the Disease Liability of CFTR Variants in CYSTIC FIBROSIS
  • 2010-12 Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients in RESPIRATORY RESEARCH
  • 2010-06 Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-12 Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results in HUMAN GENETICS
  • 2009-09 A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis in DIABETOLOGIA
  • 2009-08 Variation in the Lymphotoxin-α/Tumor Necrosis Factor Locus Modifies Risk of Erythema Nodosum in Sarcoidosis in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2009-04 Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease in NATURE
  • 2008-12 Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders in GENETICS IN MEDICINE
  • 2007-11 The Cystic Fibrosis mutation “arms race”: when less is more in GENETICS IN MEDICINE
  • 2007-09 The CFTR-derived peptides as a model of sequence-specific protein aggregation in CELLULAR & MOLECULAR BIOLOGY LETTERS
  • 2006-08 Cystic Fibrosis: Using genetic association to identify modifiers of disease variability in cystic fibrosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-05 Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-04 Lack of Association of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations with Primary Sclerosing Cholangitis in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2004-10 Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel in GENETICS IN MEDICINE
  • 2003-07 Evidence for asthma susceptibility genes on chromosome 11 in an African-American population in HUMAN GENETICS
  • 2001-04 Laboratory standards and guidelines for population-based cystic fibrosis carrier screening in GENETICS IN MEDICINE
  • 2000-01 Sequence characterization of the –TIIAIallele of athalassemia and rapid detection using a single-tube multiplex-PCR assay in GENETICS IN MEDICINE
  • 1999-06 Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 in NATURE GENETICS
  • 1997-04 Possible association of the allele status of the CS.7/HhaI polymorphism 5′ of the CFTR gene with postnatal female survival in HUMAN GENETICS
  • 1993-11 A mutation in CFTR produces different phenotypes depending on chromosomal background in NATURE GENETICS
  • 1993-02 Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA in NATURE GENETICS
  • 1993-02 Spectrum of mutations in cystic fibrosis in JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
  • 1992-11 A transformed human epithelial cell line that retains tight junctions post crisis in IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY
  • 1992-09 Two steps closer to gene therapy for cystic fibrosis in NATURE GENETICS
  • 1991-08 Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene in HUMAN GENETICS
  • 1991-06 The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q in HUMAN GENETICS
  • 1990-07 A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein in NATURE
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