FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Garry Cutting

Research Profile

Chemicals & Drugs

Disorders

Cystic Fibrosis

Physiology

Concepts & Ideas

Molecular Sequence Data

Procedures

Genes & Molecular Sequences

Anatomy

Cell Line

Living Beings

Co-author Network

Publications

TOP 3
Claude Ferec; Garry R Cutting
Assessing the Disease-Liability of Mutations in CFTR.
Gia M Bradley; Vishal K Doshi; Christopher P Watson; SCOTT BLACKMAN; Garry R Cutting
Genetic modifiers of nutritional status in cystic fibrosis.
George P Patrinos; Ming Qi; Rajkumar S Ramesar; Feliciano J Ramos; David Rimoin; Helen Robinson; Augusto Rojas-Martinez; Tilak Ram Shrestha; Timothy D Smith; María-Jesús Sobrido; Ghazi Tadmouri; Graham R Taylor; Mauno Vihinen; Tom Weber; Martina Witsch-Baumgartner; Bin Alwi Zilfalil; Fahd Al-Mulla; Arleen D Auerbach; John Burn; Kevin Carpenter; Lotfi Chouchane; Richard G H Cotton; Garry R Cutting; Thomy de Ravel; Vu Chi Dung; Mona O El-Ruby; Wayne Grody; Andreas Hadjisavvas; Sherifa A Hamed; Julia Hasler; Heather Howard; Lynn Jorde; Jim Kaput; Xi-Tao Li; Milan Macek; Makia Marafie; Yoichi Matsubara; Carmancita Padilla
Human Variome Project country nodes: documenting genetic information within a country.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Garry Cutting (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2012: Claude Ferec; Garry R Cutting
Assessing the Disease-Liability of Mutations in CFTR.
Cold Spring Harbor perspectives in medicine 2012;2(12):a009480.
2012: Gia M Bradley; Vishal K Doshi; Christopher P Watson; SCOTT BLACKMAN; Garry R Cutting
Genetic modifiers of nutritional status in cystic fibrosis.
The American journal of clinical nutrition 2012;96(6):1299-308.
2012: George P Patrinos; Ming Qi; Rajkumar S Ramesar; Feliciano J Ramos; David Rimoin; Helen Robinson; Augusto Rojas-Martinez; Tilak Ram Shrestha; Timothy D Smith; María-Jesús Sobrido; Ghazi Tadmouri; Graham R Taylor; Mauno Vihinen; Tom Weber; Martina Witsch-Baumgartner; Bin Alwi Zilfalil; Fahd Al-Mulla; Arleen D Auerbach; John Burn; Kevin Carpenter; Lotfi Chouchane; Richard G H Cotton; Garry R Cutting; Thomy de Ravel; Vu Chi Dung; Mona O El-Ruby; Wayne Grody; Andreas Hadjisavvas; Sherifa A Hamed; Julia Hasler; Heather Howard; Lynn Jorde; Jim Kaput; Xi-Tao Li; Milan Macek; Makia Marafie; Yoichi Matsubara; Carmancita Padilla
Human Variome Project country nodes: documenting genetic information within a country.
Human mutation 2012;33(11):1513-9.
2012: David L Masica; Patrick Ryan Sosnay; Garry R Cutting; Rachel Karchin
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.
Human mutation 2012;33(8):1267-74.
2012: Deanna M Green; Kathryn E McDougal; Kathleen M Naughton; SCOTT BLACKMAN; Michael MICHAEL Collaco; Garry R Cutting
Heritability of respiratory infection with Pseudomonas aeruginosa in cystic fibrosis.
The Journal of pediatrics 2012;161(2):290-5.e1.
2012: Hila Romi; Sara Sivan; Baruch Yerushalmi; Suliman Alkrinawi; Idan Cohen; Garry R Cutting; Reli Hershkovitz; Daniel Landau; Nitza Newman-Heiman; Rivka Ofir; Ohad Birk
Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.
American journal of human genetics 2012;90(5):893-9.
2012: Lei Sun; Sally D Wood; Fred A Wright; Diana Zelenika; Julian Zielenski; SCOTT BLACKMAN; Pierre-Yves Boëlle; Pierre-François Busson; Theodore A Chiang; Annick Clement; Mary Corey; Harriet Corvol; Garry R Cutting; Ruslan Dorfman; Vishal K Doshi; Mitchell L Drumm; Peter R Durie; Lindsay Henderson; Michael R Knowles; Weili Li; Xin Li; Fan Lin; Kathleen M Naughton; Wanda K O'Neal; Rhonda G Pace; Rashmi V Parekh; Johanna M Rommens; Jaclyn R Stonebraker; Lisa J Strug
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.
Nature genetics 2012;44(5):562-9.
2012: Bonnie W Ramsey; Ronald C Rubenstein; Pradeep K Singh; Eric J Sorscher; Frank J Accurso; Susan Banks-Schlegel; Richard C Boucher; Garry R Cutting; John F Engelhardt; William B Guggino; Christopher L Karp; Michael R Knowles; Jay K Kolls; John J LiPuma; Susan Lynch; Paul B McCray; Michael Welsh
Future directions in early cystic fibrosis lung disease research: an NHLBI workshop report.
American journal of respiratory and critical care medicine 2012;185(8):887-92.
2012: Lindsay B Henderson; Michael R Knowles; Jackob Moskovitz; Kathleen M Naughton; Rhonda G Pace; SCOTT BLACKMAN; Vishal K Doshi; Mitchell L Drumm; Peter R Durie; Garry R Cutting
Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.
PLoS genetics 2012;8(3):e1002580.
2011: Arleen D Auerbach; John Burn; Jean-Jacques Cassiman; Mireille Claustres; Richard G H Cotton; Garry R Cutting; Johan T den Dunnen; Mona El-Ruby; Marc S Greenblatt; Finlay Macrae; Yoichi Matsubara; David L Rimoin; Aida Falcon Vargas; Mauno Vihinen; Christine Van Broeckhoven
Mutation (variation) databases and registries: a rationale for coordination of efforts.
Nature reviews. Genetics 2011;12(12):881; discussion 881.
2011: Ying Wang; Paul A Watkins; Gail Stetten; Karen Tam; Cicely J Toomer; Lena Bezman; Genila Bibat; Rachel Busin; Lawrence Charnas; Joe T R Clarke; Garry R Cutting; Stacy Hewson; Barbara Karczeski; Ann B Moser; Sakkubai Naidu; Gerald V Raymond; Catherine Reeves; Ann Snowden; Steven J Steinberg
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Molecular genetics and metabolism 2011;104(1-2):160-6.
2011: Chelsea Taylor; Aaron D Webel; Fred A Wright; Julian Zielenski; Yves Berthiaume; SCOTT BLACKMAN; Michael MICHAEL Collaco; Clayton W Commander; Garry R Cutting; Ruslan Dorfman; Mitchell L Drumm; Peter Roy Durie; Michael Knowles; Weili Li; Kathleen Naughton; Rhonda G Pace; Peter Paré; Andrew Sandford; Jaclyn R Stonebraker; Lisa J Strug; Mary Corey
A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis genetic modifier studies.
Pediatric pulmonology 2011;46(9):857-69.
2011: C Bombieri; C Castellani; M Claustres; H Cuppens; Garry R Cutting; K De Boeck; N Derichs; J Dodge; P Drevínek; J S Elborn; P Farrell; C Bareil; Diana Bilton; E Girodon; K Jarvi; B Kerem; E Kerem; M Knowles; M Macek; A Munck; P F Pignatti; D Radojkovic; M Schwarz; M Seia; I Sermet; D N Sheppard; K W Southern; M Stuhrmann; E Tullis; M Tzetis; M Wilschanski; J Zielenski; C Ferec
Recommendations for the classification of diseases as CFTR-related disorders.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2011;10 Suppl 2():S86-102.
2011: Fred A Wright; Lisa J Strug; Vishal K Doshi; Clayton W Commander; SCOTT BLACKMAN; Lei Sun; Yves Berthiaume; David Cutler; Andreea Cojocaru; J Michael Collaco; Mary Corey; Ruslan Dorfman; Katrina Goddard; Deanna Green; Jack W Kent; Ethan M Lange; Seunggeun Lee; Weili Li; Jingchun Luo; Gregory M Mayhew; Kathleen M Naughton; Rhonda G Pace; Peter Paré; Johanna M Rommens; Andrew Sandford; Jaclyn R Stonebraker; Wei Sun; Chelsea Taylor; Lori L Vanscoy; Fei Zou; John C Blangero; Julian Zielenski; Wanda K O'Neal; Mitchell L Drumm; Peter Roy Durie; Michael R Knowles; Garry R Cutting
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
Nature genetics 2011;43(6):539-46.
2011: Molly B Sheridan; Timothy W Hefferon; Nulang Wang; Christian A Merlo; Carlos Milla; Drucy Borowitz; Eric D Green; Peter J Mogayzel; Garry R Cutting
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.
Journal of medical genetics 2011;48(4):235-41.
2011: Regina M Zambrano; Elizabeth Wohler; Göran Annerén; Ann-Charlotte Thuresson; Garry R Cutting; Denise A S Batista
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.
European journal of medical genetics 2011;54(2):189-93.
2011: W Li; Lei Sun; Mary Corey; F Zou; S Lee; A L Cojocaru; Carol L Freund-Taylor; SCOTT BLACKMAN; A Stephenson; A J Sandford; R Dorfman; Mitchell L Drumm; Garry R Cutting; Michael Knowles; Peter Roy Durie; F A Wright; Lisa J Strug
Understanding the population structure of North American patients with cystic fibrosis.
Clinical genetics 2011;79(2):136-46.
2011: Michael MICHAEL Collaco; Deanna M Green; Timothy Shields; John McGready; Claire E Wainwright; Christopher P Watson; Kathleen M Naughton; Scott C Bell; Garry R Cutting
Effect of temperature on cystic fibrosis lung disease and infections: a replicated cohort study.
PloS one 2011;6(11):e27784.
2011: Patrick Ryan Sosnay; Carlo Castellani; Mary Corey; Ruslan Dorfman; Julian Zielenski; Rachel Karchin; Christopher M Penland; Garry R Cutting
Evaluation of the disease liability of CFTR variants.
Methods in molecular biology (Clifton, N.J.) 2011;742():355-72.
2011: Xinjing Wang; Garry R Cutting
Chronic rhinosinusitis.
Advances in oto-rhino-laryngology 2011;70():114-21.
2010: Garry R Cutting
Modifier genes in Mendelian disorders: the example of cystic fibrosis.
Annals of the New York Academy of Sciences 2010;1214():57-69.
2010: M R J Kohonen-Corish; Jumana Y Al-Aama; Arleen D Auerbach; Myles Axton; Carol Isaacson Barash; Inge Bernstein; Christophe Béroud; John Burn; Fiona Cunningham; Garry R Cutting; Johan T den Dunnen; Marc S Greenblatt; Jim Kaput; Michael Katz; Annika Lindblom; Finlay Macrae; Donna Maglott; Gabriela Möslein; Sue Povey; Raj Ramesar; Sue Richards; Daniela Seminara; María-Jesús Sobrido; Sean V Tavtigian; Graham Taylor; Mauno Vihinen; Ingrid Winship; Richard G H Cotton
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
Human mutation 2010;31(12):1374-81.
2010: Michael MICHAEL Collaco; Deanna M Green; Garry R Cutting; Kathleen M Naughton; Peter J Mogayzel
Location and duration of treatment of cystic fibrosis respiratory exacerbations do not affect outcomes.
American journal of respiratory and critical care medicine 2010;182(9):1137-43.
2010: Michael MICHAEL Collaco; SCOTT BLACKMAN; John McGready; Kathleen M Naughton; Garry R Cutting
Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function.
The Journal of pediatrics 2010;157(5):802-7.e1-3.
2010: Mark H Paalman; Richard G H Cotton; Garry R Cutting
On genomic DNA paradigms, research publications, and scholarly inquiry.
Human mutation 2010;31(10):1089.
2010: Kathryn E McDougal; Deanna M Green; Lori L Vanscoy; MARGARET D FALLIN; Michael Grow; Suzanne Cheng; SCOTT BLACKMAN; Michael MICHAEL Collaco; Lindsay B Henderson; Kathleen Naughton; Garry R Cutting
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis.
European journal of human genetics : EJHG 2010;18(6):680-4.
2010: Carlo Castellani; Milan Macek Jr.; Jean-Jacques Cassiman; Alistair Duff; John Massie; Leo P ten Kate; David Barton; Garry R Cutting; Bruno Dallapiccola; Elisabeth Dequeker; Emmanuelle Girodon; Wayne Grody; Edward W Highsmith; Helenal Kääriäinen; Stephan Kruip; Michael Morris; Pier Franco Pignatti; Ulrike Pypops; Martin Schwarz; Maria Soller; Manfred Stuhrman; Harry Cuppens
Benchmarks for cystic fibrosis carrier screening: a European consensus document.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2010;9(3):165-78.
2010: Sylvia Quemener; Jian-Min Chen; Nadia Chuzhanova; Caroline Bénech; Teresa Casals; Milan Macek Jr.; Thierry Bienvenu; Trudi McDevitt; Philip M Farrell; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Garry R Cutting; Peter D Stenson; Karine Giteau; Marie-Pierre Audrézet; David N Cooper; Claude Férec
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Human mutation 2010;31(4):421-8.
2010: Roberta M Lassance-Soares; Jie Cheng; Kristina Krasnov; Liudmila Cebotaru; Garry R Cutting; Jackson Souza-Menezes; Marcelo Marcos Morales; William B Guggino
The hypertonic environment differentially regulates wild-type CFTR and TNR-CFTR chloride channels.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2010;26(4-5):577-86.
2010: Deanna M Green; Kathryn E McDougal; SCOTT BLACKMAN; Patrick Ryan Sosnay; Lindsay B Henderson; Kathleen M Naughton; Michael MICHAEL Collaco; Garry R Cutting
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
Respiratory research 2010;11():140.
2010: Monika Kloch; Michał Milewski; Ewa Nurowska; Beata Dworakowska; Garry R Cutting; Krzysztof Dołowy
The H-loop in the second nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator is required for efficient chloride channel closing.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2010;25(2-3):169-80.
2009: Ruslan Dorfman; Weili Li; Lei Sun; Fan Lin; Yongqian Wang; Andrew Sandford; Peter D Paré; Karen McKay; Hana Kayserova; Tereza Piskackova; Milan Macek; Kamila Czerska; Dorota Sands; Harm Tiddens; Sonia Margarit; Gabriela Repetto; Marci K Sontag; Frank J Accurso; SCOTT BLACKMAN; Garry R Cutting; Lap-Chee Tsui; Mary Corey; Peter Roy Durie; Julian Zielenski; Lisa J Strug
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results.
Human genetics 2009;126(6):763-78.
2009: SCOTT BLACKMAN; STEPHANIE HSU; S E Ritter; K M Naughton; Fred A Wright; M L Drumm; Michael Knowles; Garry R Cutting
A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis.
Diabetologia 2009;52(9):1858-65.
2009: D Macaya; S H Katsanis; T W Hefferon; S Audlin; N J Mendelsohn; J Roggenbuck; Garry R Cutting
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.
American journal of medical genetics. Part A 2009;149A(8):1624-7.
2009: Kathryn E McDougal; MARGARET D FALLIN; David R Moller; ZHIMIN SONG; David J Cutler; Lori L Steiner; Garry R Cutting
Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis.
The Journal of investigative dermatology 2009;129(8):1921-6.
2009: Garry R Cutting
Genetic heterogeneity and cystic fibrosis.
Human mutation 2009;30(7):v.
2009: YuanYuan Gu; Isaac T W Harley; Lindsay B Henderson; Bruce Aronow; Ilja Vietor; Lukas A Huber; John B Harley; Jeffrey R Kilpatrick; Carl D Langefeld; Adrienne H Williams; Anil G Jegga; Jing Chen; MARSHA WILLS-KARP; S Hasan Arshad; Susan L Ewart; Chloe L Thio; Leah M Flick; Marie-Dominique Filippi; H Leighton Grimes; Mitchell L Drumm; Garry R Cutting; Michael Knowles; Christopher L Karp
Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease.
Nature 2009;458(7241):1039-42.
2009: 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 R 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; Hoyoung 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 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 Paalman; Jillian Parboosingh; George P Patrinos; Giuditta Perozzi; Ian R Phillips; Sue Povey; Suyash Prasad; Ming Qi; David J Quin; Rajkumar S Ramesar; Carolyn S (Sue) Richards; Judith Savige; Dagmar G Scheible; Rodney J Scott; Daniela Seminara; Elizabeth A Shephard; Rolf 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
Planning the human variome project: the Spain report.
Human mutation 2009;30(4):496-510.
2009: SCOTT BLACKMAN; STEPHANIE HSU; Lori L Vanscoy; Michael MICHAEL Collaco; Sarah E Ritter; Kathleen Naughton; Garry R Cutting
Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis.
The Journal of clinical endocrinology and metabolism 2009;94(4):1302-9.
2009: Mario Castro; Maria I Ramirez; James E Gern; Garry R Cutting; Greg Redding; James Hagood; Jeffrey Whitsett; Steve Abman; J Usha Raj; Robyn Barst; Gregory Kato ; David Gozal; Gabriel G Haddad; Nanduri R Prabhakar; Estelle B Gauda; Fernando D Martinez; Robert Tepper; Robert E Wood; Frank Accurso; W Gerald Teague; Jose Venegas; F Sessions Cole; Rosalind J Wright
Strategic plan for pediatric respiratory diseases research: an NHLBI working group report.
Proceedings of the American Thoracic Society 2009;6(1):1-10.
2009: Steve Abman; Alan Jobe; Victor Chernick; Carol Blaisdell; Mario Castro; Maria I Ramirez; James E Gern; Garry R Cutting; Greg Redding; James Hagood; Jeffrey Whitsett; Steve Abman; J Usha Raj; Robyn Barst; Gregory Kato ; David Gozal; Gabriel G Haddad; Nanduri R Prabhakar; Estelle B Gauda; Fernando D Martinez; Robert Tepper; Robert E Wood; Frank Accurso; W Gerald Teague; Jose Venegas; F Sessions Cole; Rosalind J Wright; Dorothy Gail; Aaron Hamvas; Carolyn Kercsmar; James P Kiley; Gail Weinmann
Strategic plan for pediatric respiratory diseases research: an NHLBI working group report.
Pediatric pulmonology 2009;44(1):2-13.
2008: Samuel M Moskowitz; James F Chmiel; Darci L Sternen; Edith Cheng; Ronald L Gibson; Susan G Marshall; Garry R Cutting
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(12):851-68.
2008: Richard G H Cotton; Arleen D Auerbach; Myles Axton; Carol Isaacson Barash; Samuel F Berkovic; Anthony J Brookes; John Burn; Garry R Cutting; Johan T den Dunnen; Paul Flicek; Nelson Freimer; Marc S Greenblatt; Heather J Howard; Michael Katz; Finlay A Macrae; Donna Maglott; Gabriela Möslein; Sue Povey; Rajkumar S Ramesar; Carolyn S (Sue) Richards; Daniela Seminara; Timothy D Smith; María-Jesús Sobrido; Jan Helge Solbakk; Rudolph E Tanzi; Sean V Tavtigian; Graham Taylor; Joji Utsunomiya; Michael Watson
GENETICS. The Human Variome Project.
Science (New York, N.Y.) 2008;322(5903):861-2.
2008: Kristina V Krasnov; Maria Tzetis; Jie Cheng; William B Guggino; Garry R Cutting
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
Human mutation 2008;29(11):1364-72.
2008: Michael MICHAEL Collaco; Garry R Cutting
Update on gene modifiers in cystic fibrosis.
Current opinion in pulmonary medicine 2008;14(6):559-66.
2008: Richard G H Cotton; Haig Kazazian ; Garry R Cutting; Mark Paalman
In memoriam: Victor A. McKusick (1921-2008).
Human mutation 2008;29(10):1169-70.
2008: Philip M Farrell; Beryl J Rosenstein; Terry B White; Frank J Accurso; Carlo Castellani; Garry R Cutting; Peter Roy Durie; Vicky A LeGrys; John Massie; Richard B Parad; Michael J Rock; Preston W Campbell
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.
The Journal of pediatrics 2008;153(2):S4-S14.
2008: Lindsay A Bremer; SCOTT BLACKMAN; Lori L Vanscoy; Kathryn E McDougal; Amanda Bowers; Kathleen M Naughton; David J Cutler; Garry R Cutting
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
Human molecular genetics 2008;17(14):2228-37.
2008: C Castellani; H Cuppens; Milan Macek Jr.; J J Cassiman; E Kerem; Peter Roy Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; Garry R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; Michael Knowles; A Munck; P F Pignatti; Dragica Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; Maria Tzetis; J Zielenski; J S Elborn
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2008;7(3):179-96.
2008: Michael MICHAEL Collaco; Lori Vanscoy; Lindsay Bremer; Kathryn McDougal; SCOTT BLACKMAN; Amanda Bowers; Kathleen Naughton; Jacky Jennings; Jonathan M Ellen; Garry R Cutting
Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease.
JAMA : the journal of the American Medical Association 2008;299(4):417-24.
2007: Wayne W Grody; Garry R Cutting; Michael S Watson
The Cystic Fibrosis mutation "arms race": when less is more.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(11):739-44.
2007: STEPHANIE HSU; Joshua D Groman; Christian A Merlo; Kathleen Naughton; Pamela L Zeitlin; Emily L Germain-Lee; Michael P Boyle; Garry R Cutting
Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency.
The Journal of clinical endocrinology and metabolism 2007;92(10):3941-8.
2007: Daniel Bąk; Garry R Cutting; Michał Milewski
The CFTR-derived peptides as a model of sequence-specific protein aggregation.
Cellular & molecular biology letters 2007;12(3):435-47.
2007: Belinda Giardine; Cathy Riemer; Tim Hefferon; Daryl Thomas; Fan Hsu; Julian Zielenski; Yunhua Sang; Laura Elnitski; Garry R Cutting; Heather Trumbower; Andrew Kern; Robert Kuhn; George P Patrinos; Jim Hughes; Doug Higgs; David Chui; Charles R Scriver; Manyphong Phommarinh; Santosh K Patnaik; Olga O Blumenfeld; Bruce Gottlieb; Mauno Vihinen; Jouni Väliaho; W James Kent; Webb Miller; Ross C Hardison
PhenCode: connecting ENCODE data with mutations and phenotype.
Human mutation 2007;28(6):554-62.
2007: Lori L Vanscoy; SCOTT BLACKMAN; Michael MICHAEL Collaco; Amanda Bowers; Teresa Lai; Kathleen Naughton; Marilyn Algire; Rita McWilliams; Suzanne Beck; Julie E Hoover-Fong; Ada Hamosh; Dave Cutler; Garry R Cutting
Heritability of lung disease severity in cystic fibrosis.
American journal of respiratory and critical care medicine 2007;175(10):1036-43.
2007: Kitti Buranawuti; Michael P Boyle; Suzanne Cheng; Lori L Steiner; Kathryn McDougal; MARGARET D FALLIN; Christian A Merlo; Pamela L Zeitlin; Beryl J Rosenstein; Peter J Mogayzel; Xinjing Wang; Garry R Cutting
Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis.
Journal of medical genetics 2007;44(3):209-14.
2006: SCOTT BLACKMAN; Rebecca Deering-Brose; Rita McWilliams; Kathleen Naughton; Barbara Coleman; Teresa Lai; Marilyn Algire; Suzanne Beck; Julie E Hoover-Fong; Ada Hamosh; MARGARET D FALLIN; Kristen West; Dan E Arking; Aravinda Chakravarti; David J Cutler; Garry R Cutting
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis.
Gastroenterology 2006;131(4):1030-9.
2006: Claude Férec; Teresa Casals; Nadia Chuzhanova; Milan Macek Jr.; Thierry Bienvenu; Andrea Holubova; Caitriona King; Trudi McDevitt; Carlo Castellani; Philip M Farrell; Molly Sheridan; Sarah-Jane Pantaleo; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Francesca Torricelli; Garry R Cutting; Robert Williamson; Maria Jesus Alonso Ramos; Pier Franco Pignatti; Odile Raguénès; David N Cooper; Marie-Pierre Audrézet; Jian-Min Chen
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.
European journal of human genetics : EJHG 2006;14(5):567-76.
2005: Molly B Sheridan; Peying Fong; Joshua D Groman; Carol Conrad; Patrick A Flume; Ruben Diaz; Christopher Harris; Michael Knowles; Garry R Cutting
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
Human molecular genetics 2005;14(22):3493-8.
2005: Joshua D Groman; Barbara Karczeski; Molly Sheridan; Terry E Robinson; MARGARET D FALLIN; Garry R Cutting
Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.
The Journal of pediatrics 2005;146(5):675-80.
2005: Garry R Cutting
Genetics and pediatric diseases.
Journal of pediatric gastroenterology and nutrition 2005;40 Suppl 1():S44.
2005: Juan F Gallegos-Orozco; Catherine E Yurk; Nulang Wang; Jorge Rakela; Michael R Charlton; Garry R Cutting; Vijayan Balan
Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis.
The American journal of gastroenterology 2005;100(4):874-8.
2005: Xinjing Wang; JEAN KIM; Rita McWilliams; Garry R Cutting
Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation.
Archives of otolaryngology--head & neck surgery 2005;131(3):237-40.
2005: Michal I Milewski; Andrea Lopez; Monika Jurkowska; Jessica Larusch; Garry R Cutting
PDZ-binding motifs are unable to ensure correct polarized protein distribution in the absence of additional localization signals.
FEBS letters 2005;579(2):483-7.
2005: Garry R Cutting
Modifier genetics: cystic fibrosis.
Annual review of genomics and human genetics 2005;6():237-60.
2005: Steven J Steinberg; S Katsanis; Ann B Moser; Garry R Cutting
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection.
Journal of medical genetics 2005;42(1):38-44.
2004: Joshua D Groman; William E Bolger; Lois Brass-Ernst; Milan Macek Jr.; Pamela L Zeitlin; Garry R Cutting
Recurrent and destructive nasal polyposis in 2 siblings: a possible case of Woakes' syndrome.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2004;131(6):1009-11.
2004: Steven J Steinberg; Li Chen; Liumei Wei; Ann B Moser; Hugo Moser; Garry R Cutting; Nancy Braverman
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Molecular genetics and metabolism 2004;83(3):252-63.
2004: Michael S Watson; Garry R Cutting; Robert J Desnick; Deborah A Driscoll; Katherine Klinger; Michael T Mennuti; Glenn E Palomaki; Bradley W Popovich; Victoria M Pratt; Elizabeth M Rohlfs; Charles M Strom; Carolyn S (Sue) Richards; David R Witt; Wayne W Grody
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(5):387-91.
2004: Margarida D Amaral; Luka A Clarke; Anabela S Ramalho; Sebastian Beck; Fiona C Broackes-Carter; Rebecca Rowntree; Nathalie Mouchel; Sarah Williams; Ann Harris; Maria Tzetis; Bernhard Steiner; Javier Sanz; Sabina Gallati; Malka Nissim-Rafinifa; Batsheva Kerem; Timothy Hefferon; Garry R Cutting; Elisa Goina; Franco Pagani
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2004;3 Suppl 2():17-23.
2004: Y Zhou; Hai-Yang Law; Corinne D Boehm; CS Yoon; Garry R Cutting; Ivy S L Ng; Samuel S Chong
Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay.
Journal of medical genetics 2004;41(4):e45.
2004: Timothy W Hefferon; Joshua D Groman; Catherine E Yurk; Garry R Cutting
A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(10):3504-9.
2004: Joshua D Groman; Timothy W Hefferon; Teresa Casals; Lluís Bassas; Xavier Estivill; Marie Des Georges; Caroline Guittard; Monika Koudova; MARGARET D FALLIN; Krisztina Nemeth; Gyorgy Fekete; Ludovit Kadasi; Kenneth Friedman; Martin Schwarz; Cristina Bombieri; Pier Franco Pignatti; Emmanuel Kanavakis; Maria Tzetis; Marianne Schwartz; Giuseppe Novelli; Maria Rosaria D'Apice; Agnieszka Sobczynska-Tomaszewska; Jerzy Bal; Manfred Stuhrmann; Milan Macek Jr.; Mireille Claustres; Garry R Cutting
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
American journal of human genetics 2004;74(1):176-9.
2003: Rita McWilliams; Julie E Hoover-Fong; Ada Hamosh; Suzanne Beck; Terri H beaty; Garry R Cutting
Problematic variation in local institutional review of a multicenter genetic epidemiology study.
JAMA : the journal of the American Medical Association 2003;290(3):360-6.
2003: Shau-Ku Huang; Rasika A Mathias; Eva Ehrlich; Beverly Plunkett; Xin Liu; Garry R Cutting; Xin-Jing Wang; Xiao-Dong Li; Alkis Togias; Kathleen C Barnes; Floyd Malveaux; Stephen Rich; Beverly Mellen; Ethan M Lange; Terri H beaty
Evidence for asthma susceptibility genes on chromosome 11 in an African-American population.
Human genetics 2003;113(1):71-5.
2002: Anabela S Ramalho; Sebastian Beck; Michelle Meyer; Deborah Penque; Garry R Cutting; Margarida D Amaral
Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.
American journal of respiratory cell and molecular biology 2002;27(5):619-27.
2002: Agnieszka Swiatecka-Urban; Marc Duhaime; Bonita Coutermarsh; Katherine H Karlson; James Collawn; Michal I Milewski; Garry R Cutting; William B Guggino; George M Langford; Bruce A Stanton
PDZ domain interaction controls the endocytic recycling of the cystic fibrosis transmembrane conductance regulator.
The Journal of biological chemistry 2002;277(42):40099-105.
2002: Michal I Milewski; John E Mickle; John K Forrest; Bruce A Stanton; Garry R Cutting
Aggregation of misfolded proteins can be a selective process dependent upon peptide composition.
The Journal of biological chemistry 2002;277(37):34462-70.
2002: Joshua D Groman; Michelle E Meyer; Robert W Wilmott; Pamela L Zeitlin; Garry R Cutting
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
The New England journal of medicine 2002;347(6):401-7.
2002: Timothy W Hefferon; Fiona C Broackes-Carter; Ann Harris; Garry R Cutting
Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.
American journal of human genetics 2002;71(2):294-303.
2002: XinJing Wang; Angela Myers; Randall K Saiki; Garry R Cutting
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.
Clinical chemistry 2002;48(7):1121-3.
2002: Reza Yaghmai; Garry R Cutting
Optimized regulation of gene expression using artificial transcription factors.
Molecular therapy : the journal of the American Society of Gene Therapy 2002;5(6):685-94.
2002: Deyanira Corzo; William Gibson; Kisha Johnson; Grant Mitchell; Guy LePage; Gerald F Cox; Robin Casey; Carolyn Zeiss; Heidi Tyson; Garry R Cutting; Gerald V Raymond; Kirby D Smith; Paul A Watkins; Ann B Moser; Hugo W Moser; Steven J Steinberg
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
American journal of human genetics 2002;70(6):1520-31.
2002: Tam E Eaton; P Weiner Miller; Jeffrey E Garrett; Garry R Cutting
Cystic fibrosis transmembrane conductance regulator gene mutations: do they play a role in the aetiology of allergic bronchopulmonary aspergillosis?
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2002;32(5):756-61.
2002: Jie Cheng; Bryan D Moyer; Michal I Milewski; Johannes Loffing; Masahiro Ikeda; John E Mickle; Garry R Cutting; Min Li; Bruce A Stanton; William B Guggino
A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression.
The Journal of biological chemistry 2002;277(5):3520-9.
2001: Stephan Kemp; A Pujol; Hans R Waterham; Bjorn M Van Geel; Corinne D Boehm; Gerald V Raymond; Garry R Cutting; Ronald J A Wanders; Hugo W Moser
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Human mutation 2001;18(6):499-515.
2001: Y Wu; Garry R Cutting
Developmentally regulated expression of GABA receptor rho1 and rho2 subunits, L7 and cone-rod homeobox (CRX) genes in mouse retina.
Brain research 2001;912(1):1-8.
2001: J A Heath; K Beaverson; Patricia J Giardina; Corinne D Boehm; Garry R Cutting
A novel beta-thalassemia intermedia phenotype containing Nt494+129T-->C and NT494+132C-->A mutations in cis and a Nt168C-->T (beta(o) 39 point) mutation in trans.
American journal of hematology 2001;67(1):57-8.
2001: Wayne W Grody; Garry R Cutting; K W Klinger; Carolyn S (Sue) Richards; Michael S Watson; Robert J Desnick
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(2):149-54.
2001: Michal I Milewski; John E Mickle; J K Forrest; D M Stafford; Bryan D Moyer; Jie Cheng; William B Guggino; Bruce A Stanton; Garry R Cutting
A PDZ-binding motif is essential but not sufficient to localize the C terminus of CFTR to the apical membrane.
Journal of cell science 2001;114(Pt 4):719-26.
2000: Xinjing Wang; B Moylan; Donald A Leopold; JEAN KIM; R C Rubenstein; Alkis Togias; David Proud; Pamela L Zeitlin; Garry R Cutting
Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population.
JAMA : the journal of the American Medical Association 2000;284(14):1814-9.
2000: Samuel S Chong; Corinne D Boehm; Garry R Cutting; Douglas R Higgs
Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia.
Clinical chemistry 2000;46(10):1692-5.
2000: Bryan D Moyer; M Duhaime; Collin Shaw; Jerod S Denton; D Reynolds; Katherine H Karlson; J Pfeiffer; S Wang; John E Mickle; Michal I Milewski; Garry R Cutting; William B Guggino; Min Li; Bruce A Stanton
The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane.
The Journal of biological chemistry 2000;275(35):27069-74.
2000: Marina Kniazeva; Elias Traboulsi; Z Yu; Susan Tonya Stefko; Michael B Gorin; Yin Yao Shugart; Jeffrey R O'Connell; C J Blaschak; Garry R Cutting; Min Han; Kang Zhang
A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.
American journal of ophthalmology 2000;130(2):197-202.
2000: Irene Marcos; A Ruiz; C J Blaschak; Salud Borrego; Garry R Cutting; Guillermo Antinolo
Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa.
Journal of medical genetics 2000;37(6):E5.
2000: John E Mickle; Garry R Cutting
Genotype-phenotype relationships in cystic fibrosis.
The Medical clinics of North America 2000;84(3):597-607.
2000: John E Mickle; Michal I Milewski; Milan Macek Jr.; Garry R Cutting
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels.
American journal of human genetics 2000;66(5):1485-95.
2000: Samuel S Chong; Corinne D Boehm; Douglas R Higgs; Garry R Cutting
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.
Blood 2000;95(1):360-2.
1999: Ralf Enz; B J Ross; Garry R Cutting
Expression of the voltage-gated chloride channel ClC-2 in rod bipolar cells of the rat retina.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1999;19(22):9841-7.
1999: Ralf Enz; Garry R Cutting
Identification of 70 amino acids important for GABA(C) receptor rho1 subunit assembly.
Brain research 1999;846(2):177-85.
1999: Bryan D Moyer; Jerod S Denton; Katherine H Karlson; D Reynolds; S Wang; John E Mickle; Michal I Milewski; Garry R Cutting; William B Guggino; Min Li; Bruce A Stanton
A PDZ-interacting domain in CFTR is an apical membrane polarization signal.
The Journal of clinical investigation 1999;104(10):1353-61.
1999: MF Kniazeva; Michael Chiang; Garry R Cutting; Donald J Zack; Min Han; Kang Zhang
Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease.
Ophthalmic genetics 1999;20(2):71-81.
1999: Julian Zielenski; Mary Corey; Richard Rozmahel; Danuta Markiewicz; Isabel Aznarez; Teresa Casals; Sara Larriba; B Mercier; Garry R Cutting; Alice Krebsova; Milan Macek Jr.; E Langfelder-Schwind; B C Marshall; Joan Decelie-Germana; M Claustres; AM Palacio; Jerzy Bal; A Nowakowska; C Ferec; Xavier Estivill; Peter Roy Durie; Lap-Chee Tsui
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.
Nature genetics 1999;22(2):128-9.
1999: Corinne D Boehm; Garry R Cutting; MB Lachtermacher; Hugo W Moser; Samuel S Chong
Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.
Molecular genetics and metabolism 1999;66(2):128-36.
1999: Ralf Enz; Garry R Cutting
GABAC receptor rho subunits are heterogeneously expressed in the human CNS and form homo- and heterooligomers with distinct physical properties.
The European journal of neuroscience 1999;11(1):41-50.
1998: John E Mickle; Garry R Cutting
Clinical implications of cystic fibrosis transmembrane conductance regulator mutations.
Clinics in chest medicine 1998;19(3):443-58, v.
1998: Thilo Dörk; E H El-Harith; Manfred Stuhrmann; Milan Macek Jr.; M Egan; Garry R Cutting; Maria Tzetis; E Kanavakis; S Carles; Mireille Claustres; Carolyn Padoa; M Ramsay; J Schmidtke
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.
American journal of human genetics 1998;63(2):656-62.
1998: Ralf Enz; Garry R Cutting
Molecular composition of GABAC receptors.
Vision research 1998;38(10):1431-41.
1998: Beryl J Rosenstein; Garry R Cutting
The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel.
The Journal of pediatrics 1998;132(4):589-95.
1998: John E Mickle; Milan Macek Jr.; S B Fulmer-Smentek; M M Egan; Erik M Schwiebert; William B Guggino; R Moss; Garry R Cutting
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.
Human molecular genetics 1998;7(4):729-35.
1998: Erik M Schwiebert; L P Cid-Soto; D Stafford; M Carter; Carol J Blaisdell; Pamela L Zeitlin; William B Guggino; Garry R Cutting
Analysis of ClC-2 channels as an alternative pathway for chloride conduction in cystic fibrosis airway cells.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(7):3879-84.
1998: Ada Hamosh; Stacey C FitzSimmons; Milan Macek Jr.; Michael Knowles; Beryl J Rosenstein; Garry R Cutting
Comparison of the clinical manifestations of cystic fibrosis in black and white patients.
The Journal of pediatrics 1998;132(2):255-9.
1998: Abigail S Hackam; TL Wang; William B Guggino; Garry R Cutting
Sequences in the amino termini of GABA rho and GABA(A) subunits specify their selective interaction in vitro.
Journal of neurochemistry 1998;70(1):40-6.
1997: Haohua Qian; GA Hyatt; A Schanzer; R Hazra; Abigail S Hackam; Garry R Cutting; John E Dowling
A comparison of GABAC and rho subunit receptors from the white perch retina.
Visual neuroscience 1997;14(5):843-51.
1997: Abigail S Hackam; TL Wang; William B Guggino; Garry R Cutting
The N-terminal domain of human GABA receptor rho1 subunits contains signals for homooligomeric and heterooligomeric interaction.
The Journal of biological chemistry 1997;272(21):13750-7.
1997: Milan Macek; M Macek; A Krebsová; E Nash; Ada Hamosh; A Reis; R Varon-Mateeva; J Schmidtke; NE Maestri; K Sperling; M Krawczak; Garry R Cutting
Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival.
Human genetics 1997;99(5):565-72.
1997: Milan Macek Jr.; A Mackova; Ada Hamosh; B C Hilman; R F Selden; G Lucotte; Kenneth Friedman; Michael Knowles; Beryl J Rosenstein; Garry R Cutting
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
American journal of human genetics 1997;60(5):1122-7.
1997: Abigail S Hackam; TL Wang; William B Guggino; Garry R Cutting
A 100 amino acid region in the GABA rho 1 subunit confers robust homo-oligomeric expression.
Neuroreport 1997;8(6):1425-30.
1997: Milan Macek Jr.; B Mercier; A Macková; P W Miller; Ada Hamosh; C Férec; Garry R Cutting
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Human mutation 1997;9(2):136-47.
1996: William G Kearns; S A Afione; S B Fulmer; M C Pang; D Erikson; M Egan; M J Landrum; Terence R Flotte; Garry R Cutting
Recombinant adeno-associated virus (AAV-CFTR) vectors do not integrate in a site-specific fashion in an immortalized epithelial cell line.
Gene therapy 1996;3(9):748-55.
1996: P W Miller; Ada Hamosh; Milan Macek Jr.; P A Greenberger; J MacLean; S M Walden; R G Slavin; Garry R Cutting
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.
American journal of human genetics 1996;59(1):45-51.
1996: Marcelo Marcos Morales; T P Carroll; T Morita; Erik M Schwiebert; O Devuyst; Patricia D Wilson; Aníbal G Lopes; Bruce A Stanton; Harry C Dietz; Garry R Cutting; William B Guggino
Both the wild type and a functional isoform of CFTR are expressed in kidney.
The American journal of physiology 1996;270(6 Pt 2):F1038-48.
1996: S A Afione; Carol K Conrad; William G Kearns; S Chunduru; Robert J Adams; T C Reynolds; William B Guggino; Garry R Cutting; Barbara J Carter; Terence R Flotte
In vivo model of adeno-associated virus vector persistence and rescue.
Journal of virology 1996;70(5):3235-41.
1995: T L Wang; Abigail S Hackam; William B Guggino; Garry R Cutting
A single amino acid in gamma-aminobutyric acid rho 1 receptors affects competitive and noncompetitive components of picrotoxin inhibition.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(25):11751-5.
1995: T L Wang; Abigail S Hackam; William B Guggino; Garry R Cutting
A single histidine residue is essential for zinc inhibition of GABA rho 1 receptors.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1995;15(11):7684-91.
1995: S B Fulmer; Erik M Schwiebert; Marcelo Marcos Morales; William B Guggino; Garry R Cutting
Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(15):6832-6.
1995: Erik M Schwiebert; Marie E Egan; T H Hwang; S B Fulmer; S S Allen; Garry R Cutting; William B Guggino
CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP.
Cell 1995;81(7):1063-73.
1995: T P Carroll; Marcelo Marcos Morales; S B Fulmer; S S Allen; Terence R Flotte; Garry R Cutting; William B Guggino
Alternate translation initiation codons can create functional forms of cystic fibrosis transmembrane conductance regulator.
The Journal of biological chemistry 1995;270(20):11941-6.
1995: L P Cid; C Montrose-Rafizadeh; David I Smith; William B Guggino; Garry R Cutting
Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues.
Human molecular genetics 1995;4(3):407-13.
1995: L S Smit; T V Strong; D J Wilkinson; Milan Macek Jr.; MK Mansoura; D L Wood; J L Cole; Garry R Cutting; Jonathan A Cohn; David C Dawson
Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.
Human molecular genetics 1995;4(2):269-73.
1995: Garry R Cutting
Correlating ion channels with disease using genetic linkage analysis.
Society of General Physiologists series 1995;50():161-8.
1994: T L Wang; William B Guggino; Garry R Cutting
A novel gamma-aminobutyric acid receptor subunit (rho 2) cloned from human retina forms bicuculline-insensitive homooligomeric receptors in Xenopus oocytes.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1994;14(11 Pt 1):6524-31.
1994: Erik M Schwiebert; T Flotte; Garry R Cutting; William B Guggino
Both CFTR and outwardly rectifying chloride channels contribute to cAMP-stimulated whole cell chloride currents.
The American journal of physiology 1994;266(5 Pt 1):C1464-77.
1993: B F O'Hara; S S Smith; G Bird; A M Persico; B K Suarez; Garry R Cutting; George R. Uhl
Dopamine D2 receptor RFLPs, haplotypes and their association with substance use in black and Caucasian research volunteers.
Human heredity 1993;43(4):209-18.
1993: T Kusama; T L Wang; William B Guggino; Garry R Cutting; George R. Uhl
GABA rho 2 receptor pharmacological profile: GABA recognition site similarities to rho 1.
European journal of pharmacology 1993;245(1):83-4.
1993: C S Chu; B C Trapnell; S Curristin; Garry R Cutting; Helen-Ann Brown Epstein
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
Nature genetics 1993;3(2):151-6.
1993: Garry R Cutting
Spectrum of mutations in cystic fibrosis.
Journal of bioenergetics and biomembranes 1993;25(1):7-10.
1993: Harry C Dietz; David Valle; Clair A Francomano; R J Kendzior; Reed E Pyeritz; Garry R Cutting
The skipping of constitutive exons in vivo induced by nonsense mutations.
Science (New York, N.Y.) 1993;259(5095):680-3.
1992: Dvorah Abeliovich; I P Lavon; Israela Lerer; T Cohen; C Springer; Avraham Avital; Garry R Cutting
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.
American journal of human genetics 1992;51(5):951-6.
1992: A L Cozens; M J Yezzi; M Yamaya; D Steiger; J A Wagner; S S Garber; L Chin; E M Simon; Garry R Cutting; P Gardner
A transformed human epithelial cell line that retains tight junctions post crisis.
In vitro cellular & developmental biology : journal of the Tissue Culture Association 1992;28A(11-12):735-44.
1992: Ada Hamosh; Beryl J Rosenstein; Garry R Cutting
CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.
Human molecular genetics 1992;1(7):542-4.
1992: C Montrose-Rafizadeh; D L Blackmon; Ada Hamosh; M M Oliva; Anita L Hawkins; S M Curristin; Constance A Griffin; Yang Vincent; William B Guggino; Garry R Cutting
Regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gene transcription and alternative RNA splicing in a model of developing intestinal epithelium.
The Journal of biological chemistry 1992;267(27):19299-305.
1992: C S Chu; B C Trapnell; S M Curristin; Garry R Cutting; Helen-Ann Brown Epstein
Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
The Journal of clinical investigation 1992;90(3):785-90.
1992: Garry R Cutting
Two steps closer to gene therapy for cystic fibrosis.
Nature genetics 1992;2(1):4-5.
1992: I McIntosh; Garry R Cutting
Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1992;6(10):2775-82.
1992: Garry R Cutting; S M Curristin; E Nash; Beryl J Rosenstein; Israela Lerer; Dvorah Abeliovich; A Hill; C Graham
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.
American journal of human genetics 1992;50(6):1185-94.
1992: Harry C Dietz; Reed E Pyeritz; E G Puffenberger; R J Kendzior; G M Corson; Cheryl L Maslen; Lynn Y Sakai; Clair A Francomano; Garry R Cutting
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
The Journal of clinical investigation 1992;89(5):1674-80.
1992: Garry R Cutting; S E Antonarakis
Prenatal diagnosis and carrier detection by DNA analysis.
Pediatrics in review / American Academy of Pediatrics 1992;13(4):138-43.
1992: Garry R Cutting; S Curristin; Huda Y Zoghbi; B O'Hara; Michael F Seldin; George R. Uhl
Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4.
Genomics 1992;12(4):801-6.
1992: S Shimada; Garry R Cutting; George R. Uhl
gamma-Aminobutyric acid A or C receptor? gamma-Aminobutyric acid rho 1 receptor RNA induces bicuculline-, barbiturate-, and benzodiazepine-insensitive gamma-aminobutyric acid responses in Xenopus oocytes.
Molecular pharmacology 1992;41(4):683-7.
1992: Israela Lerer; Michal Sagi; Garry R Cutting; Dvorah Abeliovich
Cystic fibrosis mutations delta F508 and G542X in Jewish patients.
Journal of medical genetics 1992;29(2):131-3.
1992: Pamela L Zeitlin; I Crawford; L Lu; S Woel; M E Cohen; Mark Donowitz; MH Montrose; Ada Hamosh; Garry R Cutting; Dieter C Gruenert
CFTR protein expression in primary and cultured epithelia.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(1):344-7.
1992: Harry C Dietz; J M Saraiva; Reed E Pyeritz; Garry R Cutting; Clair A Francomano
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
Human mutation 1992;1(5):366-74.
1992: Milan Macek Jr.; Ada Hamosh; S Kiesewetter; Iain McIntosh; Beryl J Rosenstein; Garry R Cutting
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.
Human mutation 1992;1(6):501-2.
1991: Ada Hamosh; B C Trapnell; Pamela L Zeitlin; C Montrose-Rafizadeh; Beryl J Rosenstein; R G Crystal; Garry R Cutting
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.
The Journal of clinical investigation 1991;88(6):1880-5.
1991: Virginia Nunes; A Gaona; Miguel Chillon; P Maña; Teresa Casals; Garry R Cutting; Xavier Estivill
Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations.
Prenatal diagnosis 1991;11(8):671-2.
1991: Jochen Reiss; D N Cooper; Jerzy Bal; R Slomski; Garry R Cutting; M Krawczak
Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.
Human genetics 1991;87(4):457-61.
1991: Harry C Dietz; Garry R Cutting; Reed E Pyeritz; Cheryl L Maslen; Lynn Y Sakai; G M Corson; E G Puffenberger; Ada Hamosh; E J Nanthakumar; S M Curristin
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
Nature 1991;352(6333):337-9.
1991: Arthur L Beaudet; R G Perciaccante; Garry R Cutting
Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.
American journal of human genetics 1991;48(6):1213.
1991: C S Chu; B C Trapnell; J J Murtagh; Joel Moss; W Dalemans; S Jallat; Annick Mercenier; A Pavirani; J P Lecocq; Garry R Cutting
Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.
The EMBO journal 1991;10(6):1355-63.
1991: Clair A Francomano; Garry R Cutting; M K McCormick; M L Chu; R Timpl; H K Hong; S E Antonarakis
The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.
Human genetics 1991;87(2):162-6.
1991: Pamela L Zeitlin; L Lu; J Rhim; Garry R Cutting; Gail Stetten; K A Kieffer; R Craig; William B Guggino
A cystic fibrosis bronchial epithelial cell line: immortalization by adeno-12-SV40 infection.
American journal of respiratory cell and molecular biology 1991;4(4):313-9.
1991: Garry R Cutting; L Lu; B F O'Hara; L M Kasch; C Montrose-Rafizadeh; David M Donovan; S Shimada; S E Antonarakis; William B Guggino; George R. Uhl
Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(7):2673-7.
1991: S A McColley; Beryl J Rosenstein; Garry R Cutting
Differences in expression of cystic fibrosis in blacks and whites.
American journal of diseases of children (1960) 1991;145(1):94-7.
1990: Garry R Cutting; L M Kasch; Beryl J Rosenstein; L C Tsui; Haig Kazazian ; S E Antonarakis
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.
The New England journal of medicine 1990;323(24):1685-9.
1990: Garry R Cutting; M J McGinniss; L M Kasch; P Tsipouras; S E Antonarakis
Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2.
Genomics 1990;8(2):407-10.
1990: Garry R Cutting; L M Kasch; Beryl J Rosenstein; Julian Zielenski; L C Tsui; S E Antonarakis; Haig Kazazian
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
Nature 1990;346(6282):366-9.
1989: Garry R Cutting; S E Antonarakis; K H Buetow; L M Kasch; Beryl J Rosenstein; Haig Kazazian
Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.
American journal of human genetics 1989;44(3):307-18.
1989: Ethylin Jabs; C A Goble; Garry R Cutting
Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(1):202-6.
1988: Garry R Cutting; S E Antonarakis; H Youssoufian; Haig Kazazian
Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene.
Molecular biology & medicine 1988;5(3):173-84.
1988: Garry R Cutting; Haig Kazazian ; S E Antonarakis; Paul D Killen; Y Yamada; Clair A Francomano
Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.
Genomics 1988;3(3):256-63.