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Genetics

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91
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Medicine

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Research.com Recognitions

  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians

Overview

Garry R. Cutting is affiliated with Johns Hopkins University School of Medicine in the United States. Their research focuses on medical and genetic aspects related to cystic fibrosis and respiratory medicine, intersecting with biochemistry and molecular biology fields.

The scientist's main fields of study include Medicine and Biochemistry, Genetics and Molecular Biology. Subfields of expertise cover Pulmonary and Respiratory Medicine, Genetics, Molecular Biology, Immunology, and Biomedical Engineering.

The research topics addressed by Garry R. Cutting encompass:

  • Cystic Fibrosis Research Advances
  • Genomics and Rare Diseases
  • Neonatal Respiratory Health Research
  • Genomic variations and chromosomal abnormalities
  • Congenital Ear and Nasal Anomalies
  • Tracheal and airway disorders
  • Immunodeficiency and Autoimmune Disorders

Frequent co-authors contributing alongside Garry R. Cutting include Karen S. Raraigh, Michael R. Knowles, Scott M. Blackman, Rhonda G. Pace, and Ronald L. Gibson. These collaborations suggest sustained partnerships in research areas related to cystic fibrosis and genetics.

Their scholarly output has been published in several venues, with notable frequent publication platforms being UNC Libraries, Journal of Cystic Fibrosis, The American Journal of Human Genetics, Genetics in Medicine, and bioRxiv (Cold Spring Harbor Laboratory).

Representative recent papers authored by or involving Garry R. Cutting are:

  • "Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria," 2022, The American Journal of Human Genetics
  • "Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup," 2023, The American Journal of Human Genetics
  • "CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)," 2020, Genetics in Medicine
  • "In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis," 2024, Journal of Cystic Fibrosis
  • "A deep learning approach to identify gene targets of a therapeutic for human splicing disorders," 2021, Nature Communications

Garry R. Cutting has been recognized as a Member of the Association of American Physicians. No specific year of award was noted.

Best Publications

  • Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.

    Philip M. Farrell;Beryl J. Rosenstein;Terry B. White;Frank J. Accurso

  • Cystic fibrosis genetics: from molecular understanding to clinical application

    Garry R. Cutting

  • Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

    C. Castellani;H. Cuppens;M. Macek;J. J. Cassiman

  • Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

    Patrick R Sosnay;Karen R Siklosi;Fredrick Van Goor;Kyle Kaniecki;Kyle Kaniecki

  • Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia

    Samuel S. Chong;Corinne D. Boehm;Corinne D. Boehm;Douglas R. Higgs;Douglas R. Higgs;Garry R. Cutting;Garry R. Cutting

  • A mutation in CFTR produces different phenotypes depending on chromosomal background

    S. Kiesewetter;M. Macek;C. Davis;S. M. Curristin

  • Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina.

    G R Cutting;L Lu;B F O'Hara;L M Kasch

  • A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

    Garry R. Cutting;Laura M. Kasch;Beryl J. Rosenstein;Julian Zielenski

  • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

    Chin Shyan Chu;Bruce C. Trapnell;Sheila Curristin;Garry R. Cutting

  • From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

    Gudio Veit;Radu G. Avramescu;Annette N. Chiang;Scott A. Houck

  • Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

    Michael S Watson;Garry R Cutting;Robert J Desnick;Deborah A. Driscoll

  • The skipping of constitutive exons in vivo induced by nonsense mutations

    Harry C. Dietz;David Valle;Clair A. Francomano;Raymond J. Kendzior

  • Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

    Wayne W. Grody;Garry R. Cutting;Katherine W. Klinger;Carolyn Sue Richards

  • GENOTYPE-PHENOTYPE RELATIONSHIPS IN CYSTIC FIBROSIS

    John E. Mickle;Garry R. Cutting

  • A Cystic Fibrosis Bronchial Epithelial Cell Line: Immortalization by Adeno-12-SV40 Infection

    P. L. Zeitlin;L. Lu;J. Rhim;G. Cutting

  • Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.

    Sarah E. Brnich;Ahmad N. Abou Tayoun;Fergus J. Couch;Garry R. Cutting

  • ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

    Stephan Kemp;Aurora Pujol;Hans R. Waterham;Björn M. Van Geel

  • A PDZ-interacting domain in CFTR is an apical membrane polarization signal.

    Bryan D Moyer;Jerod Denton;Katherine H Karlson;Donna Reynolds

  • In vivo model of adeno-associated virus vector persistence and rescue

    Sandra A. Afione;Carol K. Conrad;William G. Kearns;Suryaprabha Chunduru

  • Modifier genes in Mendelian disorders: the example of cystic fibrosis

    Garry R. Cutting

Frequent Co-Authors

William B. Guggino
William B. Guggino Johns Hopkins University
Michael R. Knowles
Michael R. Knowles University of North Carolina at Chapel Hill
Milan Macek
Milan Macek Charles University
Ada Hamosh
Ada Hamosh Johns Hopkins University
Johanna M. Rommens
Johanna M. Rommens University of Toronto
Pamela L. Zeitlin
Pamela L. Zeitlin National Jewish Health
Julian Zielenski
Julian Zielenski University of Toronto
Peter R. Durie
Peter R. Durie University of Toronto
Mary Corey
Mary Corey University of Toronto
Stylianos E. Antonarakis
Stylianos E. Antonarakis University of Geneva

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