Garry Cutting

Garry Cutting

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Garry Cutting

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Integrated Transcriptomic and Proteomic Analysis of Human Eccrine Sweat Glands Identifies Missing and Novel Proteins.

Mol Cell Proteomics 2019 Jul 12;18(7):1382-1395. Epub 2019 Apr 12.

From the ‡McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland;

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http://www.mcponline.org/lookup/doi/10.1074/mcp.RA118.001101
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http://dx.doi.org/10.1074/mcp.RA118.001101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6601213PMC
July 2019

AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations.

J Cyst Fibros 2019 Jan 22;18(1):127-134. Epub 2018 Jun 22.

Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA; Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/j.jcf.2018.05.013DOI Listing
January 2019

Sweat test for cystic fibrosis: Wearable sweat sensor vs. standard laboratory test.

J Cyst Fibros 2018 07 23;17(4):e35-e38. Epub 2018 Mar 23.

Institute for Nanobiotechnology, Johns Hopkins University, Baltimore, MD, USA; Measurement Corps, Johns Hopkins Individualized Health Initiative, Johns Hopkins University, Baltimore, MD, USA; Department of Materials Science and Engineering, Johns Hopkins University, Baltimore, MD, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15691993183007
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http://dx.doi.org/10.1016/j.jcf.2018.03.005DOI Listing
July 2018

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

Am J Hum Genet 2018 06 24;102(6):1062-1077. Epub 2018 May 24.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992123PMC
June 2018

The relationship of lung function with ambient temperature.

PLoS One 2018 18;13(1):e0191409. Epub 2018 Jan 18.

Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0191409PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773195PMC
March 2018

Treating Specific Variants Causing Cystic Fibrosis.

Authors:
Garry R Cutting

JAMA 2017 12;318(21):2130-2131

McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1001/jama.2017.16823DOI Listing
December 2017

Transformative therapies for rare CFTR missense alleles.

Curr Opin Pharmacol 2017 06 13;34:76-82. Epub 2017 Oct 13.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.coph.2017.09.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5723219PMC
June 2017

Wearable Potentiometric Chloride Sweat Sensor: The Critical Role of the Salt Bridge.

Anal Chem 2016 12 29;88(24):12241-12247. Epub 2016 Nov 29.

Institute for Nanobiotechnology, John Hopkins University , 3400 North Charles Street, Baltimore, Maryland 21218, United States.

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http://dx.doi.org/10.1021/acs.analchem.6b03391DOI Listing
December 2016

Respiratory pathogens mediate the association between lung function and temperature in cystic fibrosis.

J Cyst Fibros 2016 11 11;15(6):794-801. Epub 2016 Jun 11.

The Johns Hopkins Medical Institutions, Baltimore, MD, United States.

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http://dx.doi.org/10.1016/j.jcf.2016.05.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5138086PMC
November 2016

Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.

Hum Genome Var 2016 7;3:16020. Epub 2016 Jul 7.

Marsico Lung Institute, CF/Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC, USA.

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http://dx.doi.org/10.1038/hgv.2016.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935763PMC
July 2016

25 Years of Human Mutation.

Hum Mutat 2016 06;37(6):503-4

Institute of Genetic Medicine and Department of Pediatrics and Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/humu.22988DOI Listing
June 2016

Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants.

J Cyst Fibros 2016 05 13;15(3):285-94. Epub 2015 Dec 13.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2015.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879073PMC
May 2016

Bias in CFTR screening panels.

Genet Med 2016 Feb 29;18(2):209. Epub 2015 Oct 29.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2015.105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816068PMC
February 2016

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

Mol Biol Cell 2016 Feb;27(3):424-33

Department of Physiology, McGill University, Montréal, QC H3G 1Y6, Canada Department of Biochemistry, McGill University, Montréal, QC H3G 1Y6, Canada GRASP, McGill University, Montréal, QC H3G 1Y6, Canada

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http://dx.doi.org/10.1091/mbc.E14-04-0935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4751594PMC
February 2016

In Memoriam: Richard G.H. Cotton (1940-2015).

Hum Mutat 2015 Aug 3;36(8):741-2. Epub 2015 Jul 3.

Co-Editor, Human Mutation.

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http://dx.doi.org/10.1002/humu.22826DOI Listing
August 2015

Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis.

J Pediatr 2015 May 11;166(5):1152-1157.e6. Epub 2015 Mar 11.

Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto, Ontario, Canada; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.01.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530786PMC
May 2015

Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Hum Mol Genet 2015 Apr 8;24(7):1908-17. Epub 2014 Dec 8.

Department of Biomedical Engineering and Institute for Computational Medicine, The Johns Hopkins University, Baltimore, MD, USA, Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA

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http://dx.doi.org/10.1093/hmg/ddu607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366609PMC
April 2015

Cystic fibrosis genetics: from molecular understanding to clinical application.

Authors:
Garry R Cutting

Nat Rev Genet 2015 Jan 18;16(1):45-56. Epub 2014 Nov 18.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 North Broadway, MRB 559, Baltimore, Maryland 21205, USA.

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http://www.nature.com/articles/nrg3849
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http://dx.doi.org/10.1038/nrg3849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364438PMC
January 2015

Cat and dog exposure and respiratory morbidities in cystic fibrosis.

J Pediatr 2014 Oct 12;165(4):830-5.e2. Epub 2014 Jul 12.

Eudowood Division of Pediatric Respiratory Sciences, Baltimore, MD. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2014.05.046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177281PMC
October 2014

Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study.

BMC Pulm Med 2014 Oct 6;14:159. Epub 2014 Oct 6.

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins Medical Institutions, David M, Rubenstein Building, 200 North Wolfe Street, 21287 Baltimore, MD, USA.

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http://dx.doi.org/10.1186/1471-2466-14-159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195986PMC
October 2014

Melanocortin 3 receptor has a 5' exon that directs translation of apically localized protein from the second in-frame ATG.

Mol Endocrinol 2014 Sep 22;28(9):1547-57. Epub 2014 Jul 22.

McKusick-Nathans Institute of Genetic Medicine (J.P., N.S., G.R.C.), Johns Hopkins University, Baltimore, Maryland 21218; and Department of Pediatrics (G.R.C.), Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914.

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http://dx.doi.org/10.1210/me.2014-1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154237PMC
September 2014

The microbiome in pediatric cystic fibrosis patients: the role of shared environment suggests a window of intervention.

Microbiome 2014 28;2:14. Epub 2014 Apr 28.

Department of Microbiology and Immunology, Geisel School of Medicine at Dartmouth, 202 Remsen Building, N. College St., Hanover, NH 03755, USA.

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http://dx.doi.org/10.1186/2049-2618-2-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113139PMC
July 2014

Interpretation of genetic variants.

Thorax 2014 Mar 16;69(3):295-7. Epub 2013 Dec 16.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.1136/thoraxjnl-2013-204903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364415PMC
March 2014

Annotating DNA variants is the next major goal for human genetics.

Authors:
Garry R Cutting

Am J Hum Genet 2014 Jan;94(1):5-10

McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882730PMC
January 2014

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

Nat Genet 2013 Oct 25;45(10):1160-7. Epub 2013 Aug 25.

1] Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA. [2] Perdana University Graduate School of Medicine, Serdang, Malaysia. [3] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/ng.2745DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874936PMC
October 2013

Environmental allergies and respiratory morbidities in cystic fibrosis.

Pediatr Pulmonol 2013 Sep 9;48(9):857-64. Epub 2012 Nov 9.

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1002/ppul.22700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3572264PMC
September 2013

Genetic modifiers of nutritional status in cystic fibrosis.

Am J Clin Nutr 2012 Dec 7;96(6):1299-308. Epub 2012 Nov 7.

Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.3945/ajcn.112.043406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3497925PMC
December 2012

Assessing the Disease-Liability of Mutations in CFTR.

Cold Spring Harb Perspect Med 2012 Dec 1;2(12):a009480. Epub 2012 Dec 1.

Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale; Centre Hospitalier Universitaire (CHU), Hôpital Morvan; INSERM, U1078 Brest, France.

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http://dx.doi.org/10.1101/cshperspect.a009480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3543074PMC
December 2012

Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.

PLoS Genet 2012 15;8(3):e1002580. Epub 2012 Mar 15.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1371/journal.pgen.1002580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3305406PMC
September 2012

Heritability of respiratory infection with Pseudomonas aeruginosa in cystic fibrosis.

J Pediatr 2012 Aug 23;161(2):290-5.e1. Epub 2012 Feb 23.

Division of Pediatric Pulmonary and Sleep Medicine, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.jpeds.2012.01.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3682831PMC
August 2012

Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.

Hum Mutat 2012 Aug 22;33(8):1267-74. Epub 2012 May 22.

Department of Biomedical Engineering and Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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http://doi.wiley.com/10.1002/humu.22110
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http://dx.doi.org/10.1002/humu.22110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364283PMC
August 2012

Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.

Am J Hum Genet 2012 May 19;90(5):893-9. Epub 2012 Apr 19.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben Gurion University, Beer-Sheva 84105, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2012.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376486PMC
May 2012

Effect of temperature on cystic fibrosis lung disease and infections: a replicated cohort study.

PLoS One 2011 18;6(11):e27784. Epub 2011 Nov 18.

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0027784PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220679PMC
April 2012

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

Mol Genet Metab 2011 Sep-Oct;104(1-2):160-6. Epub 2011 Jun 22.

DNA Diagnostic Laboratory, Johns Hopkins University School of Medicine, CMSC1004, 600 N. Wolfe Street, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.016DOI Listing
January 2012

Evaluation of the disease liability of CFTR variants.

Methods Mol Biol 2011 ;742:355-72

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1007/978-1-61779-120-8_21DOI Listing
September 2011

Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1.

Eur J Med Genet 2011 Mar-Apr;54(2):189-93. Epub 2010 Dec 7.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA.

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http://dx.doi.org/10.1016/j.ejmg.2010.11.008DOI Listing
August 2011

Chronic rhinosinusitis.

Adv Otorhinolaryngol 2011 24;70:114-121. Epub 2011 Feb 24.

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http://dx.doi.org/10.1159/000322487DOI Listing
May 2011

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.

J Med Genet 2011 Apr 20;48(4):235-41. Epub 2010 Nov 20.

McKusick-Nathans Institute of Genetic Medicine, 733 North Broadway, Johns Hopkins Medical Institutions, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1136/jmg.2010.083287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065505PMC
April 2011

The hypertonic environment differentially regulates wild-type CFTR and TNR-CFTR chloride channels.

Cell Physiol Biochem 2010 29;26(4-5):577-86. Epub 2010 Oct 29.

Department of Physiology, The Johns Hopkins University, School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1159/000322325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048939PMC
March 2011

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

Authors:
Garry R Cutting

Ann N Y Acad Sci 2010 Dec;1214:57-69

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://doi.wiley.com/10.1111/j.1749-6632.2010.05879.x
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http://dx.doi.org/10.1111/j.1749-6632.2010.05879.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040597PMC
December 2010

Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function.

J Pediatr 2010 Nov 30;157(5):802-7.e1-3. Epub 2010 Jun 30.

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, Baltimore, MD 21205, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002234761000421
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http://dx.doi.org/10.1016/j.jpeds.2010.05.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948620PMC
November 2010

Location and duration of treatment of cystic fibrosis respiratory exacerbations do not affect outcomes.

Am J Respir Crit Care Med 2010 Nov 25;182(9):1137-43. Epub 2010 Jun 25.

Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins University, 200 N. Wolfe Street, David M. Rubenstein Building, 3rd Floor, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1164/rccm.201001-0057OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3001256PMC
November 2010

Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respir Res 2010 Oct 8;11:140. Epub 2010 Oct 8.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1186/1465-9921-11-140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964615PMC
October 2010

Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis.

J Invest Dermatol 2009 Aug 19;129(8):1921-6. Epub 2009 Feb 19.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/jid.2008.456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877485PMC
August 2009

Genetic heterogeneity and cystic fibrosis.

Authors:
Garry R Cutting

Hum Mutat 2009 Jul;30(7)

Johns Hopkins Medical Institutions, USA.

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http://dx.doi.org/10.1002/humu.21062DOI Listing
July 2009

Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis.

J Clin Endocrinol Metab 2009 Apr 6;94(4):1302-9. Epub 2009 Jan 6.

Division of Pediatric Endocrinology, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1210/jc.2008-2186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2682466PMC
April 2009

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

Genet Med 2008 Dec;10(12):851-68

Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 98195-7740, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31818e55a2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810953PMC
December 2008

Update on gene modifiers in cystic fibrosis.

Curr Opin Pulm Med 2008 Nov;14(6):559-66

Eudowood Division of Pediatric Respiratory Sciences, The Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1097/MCP.0b013e3283121cdcDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785460PMC
November 2008

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Hum Mutat 2008 Nov;29(11):1364-72

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA.

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http://doi.wiley.com/10.1002/humu.20866
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http://dx.doi.org/10.1002/humu.20866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785447PMC
November 2008

In memoriam: Victor A. McKusick (1921-2008).

Hum Mutat 2008 Oct;29(10):1169-70

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http://dx.doi.org/10.1002/humu.20890DOI Listing
October 2008

Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.

Hum Mol Genet 2008 Jul 17;17(14):2228-37. Epub 2008 Apr 17.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1093/hmg/ddn123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2902288PMC
July 2008

The Cystic Fibrosis mutation "arms race": when less is more.

Genet Med 2007 Nov;9(11):739-44

Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095-1732, USA.

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http://dx.doi.org/10.1097GIM.0b013e318159a331DOI Listing
November 2007

Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency.

J Clin Endocrinol Metab 2007 Oct 24;92(10):3941-8. Epub 2007 Jul 24.

Department of Pediatric Endocrinology , Johns Hopkins University, 733 North Broadway, Suite 551, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1210/jc.2007-0271DOI Listing
October 2007

The CFTR-derived peptides as a model of sequence-specific protein aggregation.

Cell Mol Biol Lett 2007 Sep 10;12(3):435-47. Epub 2007 May 10.

Laboratory of Cell Biology, Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211, Warsaw, Poland.

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http://dx.doi.org/10.2478/s11658-007-0014-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275903PMC
September 2007