Professor of Pediatrics, Johns Hopkins University School of Medicine

Medical Genetics

Dr. Garry R. Cutting works in the field of Medical Genetics. He graduated from University of Connecticut School of Medicine. University of Connecticut School of Medicine has a rank of 60 in research and a 49 in primary care He received 3 awards: "Regional Top Doctor", "CMS Meaningful Use Stage 1 Certification" and "Elected Member". Garry R. Cutting is a published doctor as well. He has 55 publications published. The latest was: 25 Years of Human Mutation.

Publications

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• Bias in CFTR screening panels.
• Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis.
• Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.
• Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.
• Cystic fibrosis genetics: from molecular understanding to clinical application.
• Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
• Melanocortin 3 Receptor Has a 5' Exon That Directs Translation of Apically Localized Protein From the Second In-Frame ATG.
• Annotating DNA variants is the next major goal for human genetics.
• Basic science for the chest physician: interpretation of genetic variants.
• Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
• Genetic modifiers of cystic fibrosis-related diabetes.
• Environmental allergies and respiratory morbidities in cystic fibrosis.
• Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.
• Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis.
• Mandatory variant submission-Our experiences.
• Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
• A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies.
• Evaluation of the Disease Liability of CFTR Variants.
• Modifier genes in Mendelian disorders: the example of cystic fibrosis.
• Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function.
• Location and duration of treatment of cystic fibrosis respiratory exacerbations do not affect outcomes.
• On genomic DNA paradigms, research publications, and scholarly inquiry.
• Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
• Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis.
• Genetic heterogeneity and cystic fibrosis.
• Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis.
• Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
• Update on gene modifiers in cystic fibrosis.
• Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relations...
• In memoriam: Victor A. McKusick (1921-2008).
• Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease.
• The Cystic Fibrosis mutation "arms race": when less is more.
• Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency.
• Heritability of lung disease severity in cystic fibrosis.
• The CFTR-derived peptides as a model of sequence-specific protein aggregation.
• Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis.
• Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.
• Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis.
• Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation.
• Modifier genetics: cystic fibrosis.
• Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
• A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.
• Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
• Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.
• PDZ domain interaction controls the endocytic recycling of the cystic fibrosis transmembrane conductance regulator.
• Aggregation of misfolded proteins can be a selective process dependent upon peptide composition.
• Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
• Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.
• Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
• Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
• Optimized regulation of gene expression using artificial transcription factors.
• A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression.
• Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study.
• 25 Years of Human Mutation.

Schools

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• Univ Of Ct Sch Of Med

• Johns Hopkins Hospital

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Clinical Molecular Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Regional Top Doctor
• CMS Meaningful Use Stage 1 Certification
• Elected Member

Education

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• Johns Hopkins University
• University of Connecticut School of Medicine

Hospital

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• Johns Hopkins Hospital

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