| Year |
Citation |
Score |
| 2024 |
Bihler H, Sivachenko A, Millen L, Bhatt P, Patel AT, Chin J, Bailey V, Musisi I, LaPan A, Allaire NE, Conte J, Simon NR, Magaret AS, Raraigh KS, Cutting GR, et al. In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 38388235 DOI: 10.1016/j.jcf.2024.02.006 |
0.314 |
|
| 2023 |
Kleinfelder K, Lotti V, Eramo A, Amato F, Lo Cicero S, Castelli G, Spadaro F, Farinazzo A, Dell'Orco D, Preato S, Conti J, Rodella L, Tomba F, Cerofolini A, Baldisseri E, ... ... Cutting G, et al. analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells. Iscience. 26: 108180. PMID 38026150 DOI: 10.1016/j.isci.2023.108180 |
0.372 |
|
| 2023 |
Mention K, Cavusoglu-Doran K, Joynt AT, Santos L, Sanz D, Eastman AC, Merlo C, Schwind EL, Scallan MF, Farinha CM, Cutting GR, Sharma N, Harrison PT. Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X. Human Molecular Genetics. PMID 37649273 DOI: 10.1093/hmg/ddad143 |
0.323 |
|
| 2023 |
Joynt AT, Kavanagh EW, Newby GA, Mitchell S, Eastman AC, Paul KC, Bowling AD, Osorio DL, Merlo CA, Patel SU, Raraigh KS, Liu DR, Sharma N, Cutting GR. Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells. Molecular Therapy. Nucleic Acids. 33: 335-350. PMID 37547293 DOI: 10.1016/j.omtn.2023.06.020 |
0.319 |
|
| 2022 |
Joynt AT, Cutting GR, Sharma N. Genetics of Cystic Fibrosis: Clinical Implications. Clinics in Chest Medicine. 43: 591-602. PMID 36344068 DOI: 10.1016/j.ccm.2022.06.003 |
0.349 |
|
| 2022 |
Aksit MA, Ling H, Pace RG, Raraigh KS, Onchiri F, Faino AV, Pagel K, Pugh E, Stilp AM, Sun Q, Blue EE, Wright FA, Zhou YH, Bamshad MJ, Gibson RL, ... ... Cutting GR, et al. Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis. American Journal of Human Genetics. 109: 1894-1908. PMID 36206743 DOI: 10.1016/j.ajhg.2022.09.004 |
0.3 |
|
| 2022 |
Raraigh KS, Paul KC, Goralski JL, Worthington EN, Faino AV, Sciortino S, Wang Y, Aksit MA, Ling H, Osorio DL, Onchiri FM, Patel SU, Merlo CA, Montemayor K, Gibson RL, ... ... Cutting GR, et al. CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor. Jci Insight. 7. PMID 35315358 DOI: 10.1172/jci.insight.148841 |
0.366 |
|
| 2022 |
Sun Q, Liu W, Rosen JD, Huang L, Pace RG, Dang H, Gallins PJ, Blue EE, Ling H, Corvol H, Strug LJ, Bamshad MJ, Gibson RL, Pugh EW, Blackman SM, ... Cutting GR, et al. Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients. Hgg Advances. 3: 100090. PMID 35128485 DOI: 10.1016/j.xhgg.2022.100090 |
0.324 |
|
| 2022 |
Saferali A, Qiao D, Kim W, Raraigh K, Levy H, Diaz AA, Cutting GR, Cho MH, Hersh CP. variants are associated with chronic bronchitis in smokers. The European Respiratory Journal. PMID 34996830 DOI: 10.1183/13993003.01994-2021 |
0.334 |
|
| 2021 |
Collaco JM, Raraigh KS, Betz J, Aksit MA, Blau N, Brown J, Dietz HC, MacCarrick G, Nogee LM, Sheridan MB, Vernon HJ, Beaty TH, Louis TA, Cutting GR. Accurate assignment of disease liability to genetic variants using only population data. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34906463 DOI: 10.1016/j.gim.2021.08.012 |
0.743 |
|
| 2021 |
Raraigh KS, Aksit MA, Hetrick K, Pace RG, Ling H, O'Neal W, Blue E, Zhou YH, Bamshad MJ, Blackman SM, Gibson RL, Knowles MR, Cutting GR. Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 34782259 DOI: 10.1016/j.jcf.2021.10.011 |
0.373 |
|
| 2021 |
Eastman AC, Pace RG, Dang H, Aksit MA, Vecchio-Pagán B, Lam AN, O'Neal WK, Blackman SM, Knowles MR, Cutting GR. SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 33674211 DOI: 10.1016/j.jcf.2021.02.007 |
0.335 |
|
| 2020 |
Dang H, Polineni D, Pace RG, Stonebraker JR, Corvol H, Cutting GR, Drumm ML, Strug LJ, O'Neal WK, Knowles MR. Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation. Plos One. 15: e0239189. PMID 33253230 DOI: 10.1371/journal.pone.0239189 |
0.329 |
|
| 2020 |
Deignan JL, Astbury C, Cutting GR, Del Gaudio D, Gregg AR, Grody WW, Monaghan KG, Richards S. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32404922 DOI: 10.1038/S41436-020-0822-5 |
0.426 |
|
| 2020 |
Dalesio NM, Aksit MA, Ahn K, Raraigh KS, Collaco JM, McGrath-Morrow S, Zeitlin PL, An SS, Cutting GR. Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis. International Forum of Allergy & Rhinology. PMID 32282124 DOI: 10.1002/Alr.22548 |
0.453 |
|
| 2020 |
Taylor-Cousar JL, Evans TA, Cutting GR, Sharma N. Potentially lethal cystic fibrosis gene variant in the orangutan. American Journal of Primatology. e23097. PMID 31967360 DOI: 10.1002/Ajp.23097 |
0.385 |
|
| 2019 |
Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS, et al. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Medicine. 12: 3. PMID 31892348 DOI: 10.1186/S13073-019-0690-2 |
0.307 |
|
| 2019 |
Sharma N, Cutting GR. The genetics and genomics of cystic fibrosis. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 31879237 DOI: 10.1016/J.Jcf.2019.11.003 |
0.427 |
|
| 2019 |
Aksit MA, Pace RG, Vecchio-Pagan B, Ling H, Rommens JM, Boelle PY, Guillot L, Raraigh KS, Pugh E, Zhang P, Strug LJ, Drumm ML, Knowles MR, Cutting GR, Corvol H, et al. Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits. The Journal of Clinical Endocrinology and Metabolism. PMID 31697830 DOI: 10.1210/Clinem/Dgz102 |
0.322 |
|
| 2019 |
Akshintala VS, Kamal A, Faghih M, Cutting GR, Cebotaru L, West NE, Jennings MT, Dezube R, Whitcomb DC, Lechtzin N, Merlo CA, Singh VK. Cystic fibrosis transmembrane conductance regulator modulators reduce the risk of recurrent acute pancreatitis among adult patients with pancreas sufficient cystic fibrosis. Pancreatology : Official Journal of the International Association of Pancreatology (Iap) ... [Et Al.]. PMID 31611131 DOI: 10.1016/J.Pan.2019.09.014 |
0.392 |
|
| 2019 |
Lam AN, Aksit MA, Vecchio-Pagan B, Shelton CA, Osorio DL, Anzmann AF, Goff LA, Whitcomb DC, Blackman SM, Cutting GR. Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis. The Journal of Clinical Investigation. PMID 31581148 DOI: 10.1172/Jci129833 |
0.366 |
|
| 2019 |
McCague AF, Raraigh KS, Pellicore MJ, Davis-Marcisak EF, Evans TA, Han ST, Lu Z, Joynt AT, Sharma N, Castellani C, Collaco JM, Corey M, Lewis MH, Penland CM, Rommens JM, ... ... Cutting GR, et al. Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis. American Journal of Respiratory and Critical Care Medicine. PMID 30888834 DOI: 10.1164/Rccm.201901-0145Oc |
0.4 |
|
| 2019 |
Gong J, Wang F, Xiao B, Panjwani N, Lin F, Keenan K, Avolio J, Esmaeili M, Zhang L, He G, Soave D, Mastromatteo S, Baskurt Z, Kim S, O'Neal WK, ... ... Cutting GR, et al. Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci. Plos Genetics. 15: e1008007. PMID 30807572 DOI: 10.1371/Journal.Pgen.1008007 |
0.419 |
|
| 2018 |
Sharma N, Evans TA, Pellicore MJ, Davis E, Aksit MA, McCague AF, Joynt AT, Lu Z, Han ST, Anzmann AF, Lam AN, Thaxton A, West N, Merlo C, Gottschalk LB, ... ... Cutting GR, et al. Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis. Plos Genetics. 14: e1007723. PMID 30444886 DOI: 10.1371/Journal.Pgen.1007723 |
0.381 |
|
| 2018 |
Han ST, Rab A, Pellicore MJ, Davis EF, McCague AF, Evans TA, Joynt AT, Lu Z, Cai Z, Raraigh KS, Hong JS, Sheppard DN, Sorscher EJ, Cutting GR. Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators. Jci Insight. 3. PMID 30046002 DOI: 10.1172/Jci.Insight.121159 |
0.417 |
|
| 2018 |
Darrah RJ, Jacono FJ, Joshi N, Mitchell AL, Sattar A, Campanaro CK, Litman P, Frey J, Nethery DE, Barbato ES, Hodges CA, Corvol H, Cutting GR, Knowles MR, Strug LJ, et al. AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 29937318 DOI: 10.1016/J.Jcf.2018.05.013 |
0.446 |
|
| 2018 |
Clancy JP, Cotton CU, Donaldson SH, Solomon GM, VanDevanter DR, Boyle MP, Gentzsch M, Nick JA, Illek B, Wallenburg JC, Sorscher EJ, Amaral MD, Beekman JM, Naren AP, Bridges RJ, ... ... Cutting G, et al. CFTR modulator theratyping: Current status, gaps and future directions. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 29934203 DOI: 10.1016/J.Jcf.2018.05.004 |
0.435 |
|
| 2018 |
Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR. Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. American Journal of Human Genetics. PMID 29805046 DOI: 10.1016/J.Ajhg.2018.04.003 |
0.802 |
|
| 2018 |
Panjwani N, Xiao B, Xu L, Gong J, Keenan K, Lin F, He G, Baskurt Z, Kim S, Zhang L, Esmaeili M, Blackman S, Scherer SW, Corvol H, Drumm M, ... ... Cutting G, et al. Improving imputation in disease-relevant regions: lessons from cystic fibrosis. Npj Genomic Medicine. 3: 8. PMID 29581887 DOI: 10.1038/S41525-018-0047-6 |
0.449 |
|
| 2018 |
Choi DH, Thaxton A, Jeong IC, Kim K, Sosnay PR, Cutting GR, Searson PC. Sweat test for cystic fibrosis: Wearable sweat sensor vs. standard laboratory test. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 29580829 DOI: 10.1016/J.Jcf.2018.03.005 |
0.319 |
|
| 2018 |
Raraigh K, Han S, Davis E, Evans T, Pellicore M, Mccague A, Joynt A, Lu Z, Atalar M, Sharma N, Sosnay P, Cutting G. WS17.3 Functional characterisation and CFTR2 disease liability assignment of 48 missense variants Journal of Cystic Fibrosis. 17: S31-S32. DOI: 10.1016/S1569-1993(18)30216-9 |
0.382 |
|
| 2017 |
Cutting GR. Treating Specific Variants Causing Cystic Fibrosis. Jama. 318: 2130-2131. PMID 29209709 DOI: 10.1001/Jama.2017.16823 |
0.445 |
|
| 2017 |
Oliver KE, Han ST, Sorscher EJ, Cutting GR. Transformative therapies for rare CFTR missense alleles. Current Opinion in Pharmacology. 34: 76-82. PMID 29032041 DOI: 10.1016/J.Coph.2017.09.018 |
0.478 |
|
| 2017 |
Polineni D, Dang H, Gallins PJ, Jones LC, Pace RG, Stonebraker JR, Commander LA, Krenicky JE, Zhou YH, Corvol H, Cutting GR, Drumm ML, Strug LJ, Boyle MP, Durie PR, et al. Airway Mucosal Host Defense is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity. American Journal of Respiratory and Critical Care Medicine. PMID 28853905 DOI: 10.1164/Rccm.201701-0134Oc |
0.424 |
|
| 2017 |
Dang H, Gallins PJ, Pace RG, Guo XL, Stonebraker JR, Corvol H, Cutting GR, Drumm ML, Strug LJ, Knowles MR, O'Neal WK. Corrigendum: Novel variation at chr11p13 associated with cystic fibrosis lung disease severity. Human Genome Variation. 4: 17016. PMID 28674633 DOI: 10.1038/Hgv.2017.16 |
0.384 |
|
| 2017 |
Lee M, Roos P, Sharma N, Atalar M, Evans TA, Pellicore MJ, Davis E, Lam AN, Stanley SE, Khalil SE, Solomon GM, Walker D, Raraigh KS, Vecchio-Pagan B, Armanios M, ... Cutting GR, et al. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites. American Journal of Human Genetics. 100: 751-765. PMID 28475858 DOI: 10.1016/J.Ajhg.2017.04.001 |
0.428 |
|
| 2017 |
Chandonia JM, Adhikari A, Carraro M, Chhibber A, Cutting GR, Fu Y, Gasparini A, Jones DT, Kramer A, Kundu K, Lam HY, Leonardi E, Moult J, Pal LR, Searls DB, et al. 3Lessons from the CAGI-4 Hopkins clinical panel challenge. Human Mutation. PMID 28397312 DOI: 10.1002/Humu.23225 |
0.328 |
|
| 2016 |
Bartoszewski R, Króliczewski J, Piotrowski A, Jasiecka AJ, Bartoszewska S, Vecchio-Pagan B, Fu L, Sobolewska A, Matalon S, Cutting GR, Rowe SM, Collawn JF. Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator. Cellular & Molecular Biology Letters. 21: 23. PMID 28536625 DOI: 10.1186/S11658-016-0025-X |
0.431 |
|
| 2016 |
Vecchio-Pagán B, Blackman SM, Lee M, Atalar M, Pellicore MJ, Pace RG, Franca AL, Raraigh KS, Sharma N, Knowles MR, Cutting GR. Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits. Human Genome Variation. 3: 16038. PMID 27917292 DOI: 10.1038/Hgv.2016.38 |
0.489 |
|
| 2016 |
Sharma N, LaRusch J, Sosnay P, Gottschalk LB, Lopez A, Pellicore MJ, Evans T, Davis E, Atalar M, Na CH, Rosson GD, Belchis D, Milewski M, Pandey A, Cutting GR. A sequence upstream of canonical PDZ binding motif within CFTR C-terminus enhances NHERF1 interaction. American Journal of Physiology. Lung Cellular and Molecular Physiology. ajplung.00363.2016. PMID 27793802 DOI: 10.1152/Ajplung.00363.2016 |
0.728 |
|
| 2016 |
Dang H, Gallins PJ, Pace RG, Guo XL, Stonebraker JR, Corvol H, Cutting GR, Drumm ML, Strug LJ, Knowles MR, O'Neal WK. Novel variation at chr11p13 associated with cystic fibrosis lung disease severity. Human Genome Variation. 3: 16020. PMID 27408752 DOI: 10.1038/Hgv.2016.20 |
0.454 |
|
| 2016 |
Collaco JM, Raraigh KS, Appel LJ, Cutting GR. Respiratory pathogens mediate the association between lung function and temperature in cystic fibrosis. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 27296562 DOI: 10.1016/J.Jcf.2016.05.012 |
0.36 |
|
| 2016 |
Collaco JM, Blackman SM, Raraigh KS, Corvol H, Rommens JM, Pace RG, Boelle PY, McGready J, Sosnay PR, Strug LJ, Knowles MR, Cutting GR. Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis. American Journal of Respiratory and Critical Care Medicine. PMID 27258095 DOI: 10.1164/Rccm.201603-0459Oc |
0.468 |
|
| 2016 |
Cutting GR, Kazazian HH. 25 Years of Human Mutation. Human Mutation. 37: 503-4. PMID 26990436 DOI: 10.1002/Humu.22988 |
0.328 |
|
| 2016 |
Lee M, Vecchio-Pagán B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, ... ... Cutting GR, et al. Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. Human Molecular Genetics. PMID 26911677 DOI: 10.1093/Hmg/Ddw065 |
0.417 |
|
| 2016 |
Veit G, Avramescu RG, Chiang AN, Houck SA, Cai Z, Peters KW, Hong JS, Pollard HB, Guggino WB, Balch WE, Skach WR, Cutting GR, Frizzell RA, Sheppard DN, Cyr DM, et al. From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations. Molecular Biology of the Cell. 27: 424-33. PMID 26823392 DOI: 10.1091/Mbc.E14-04-0935 |
0.501 |
|
| 2015 |
Gottschalk LB, Vecchio-Pagan B, Sharma N, Han ST, Franca A, Wohler ES, Batista DA, Goff LA, Cutting GR. Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 26694805 DOI: 10.1016/J.Jcf.2015.11.010 |
0.352 |
|
| 2015 |
Corvol H, Blackman SM, Boëlle PY, Gallins PJ, Pace RG, Stonebraker JR, Accurso FJ, Clement A, Collaco JM, Dang H, Dang AT, Franca A, Gong J, Guillot L, Keenan K, ... ... Cutting GR, et al. Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. Nature Communications. 6: 8382. PMID 26417704 DOI: 10.1038/Ncomms9382 |
0.427 |
|
| 2015 |
Miller MR, Soave D, Li W, Gong J, Pace RG, Boëlle PY, Cutting GR, Drumm ML, Knowles MR, Sun L, Rommens JM, Accurso F, Durie PR, Corvol H, Levy H, et al. Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis. The Journal of Pediatrics. 166: 1152-1157.e6. PMID 25771386 DOI: 10.1016/J.Jpeds.2015.01.044 |
0.416 |
|
| 2015 |
O'Neal WK, Gallins P, Pace RG, Dang H, Wolf WE, Jones LC, Guo X, Zhou YH, Madar V, Huang J, Liang L, Moffatt MF, Cutting GR, Drumm ML, Rommens JM, et al. Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes. American Journal of Human Genetics. 96: 318-28. PMID 25640674 DOI: 10.1016/J.Ajhg.2014.12.022 |
0.426 |
|
| 2015 |
Masica DL, Sosnay PR, Raraigh KS, Cutting GR, Karchin R. Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity. Human Molecular Genetics. 24: 1908-17. PMID 25489051 DOI: 10.1093/Hmg/Ddu607 |
0.386 |
|
| 2015 |
Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nature Reviews. Genetics. 16: 45-56. PMID 25404111 DOI: 10.1038/Nrg3849 |
0.408 |
|
| 2014 |
Collaco JM, Blackman SM, Raraigh KS, Morrow CB, Cutting GR, Paranjape SM. Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study. Bmc Pulmonary Medicine. 14: 159. PMID 25287419 DOI: 10.1186/1471-2466-14-159 |
0.333 |
|
| 2014 |
Hampton TH, Green DM, Cutting GR, Morrison HG, Sogin ML, Gifford AH, Stanton BA, O'Toole GA. The microbiome in pediatric cystic fibrosis patients: the role of shared environment suggests a window of intervention. Microbiome. 2: 14. PMID 25071935 DOI: 10.1186/2049-2618-2-14 |
0.484 |
|
| 2014 |
Sharma N, Sosnay PR, Ramalho AS, Douville C, Franca A, Gottschalk LB, Park J, Lee M, Vecchio-Pagan B, Raraigh KS, Amaral MD, Karchin R, Cutting GR. Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. Human Mutation. 35: 1249-59. PMID 25066652 DOI: 10.1002/Humu.22624 |
0.402 |
|
| 2014 |
Morrow CB, Raraigh KS, Green DM, Blackman SM, Cutting GR, Collaco JM. Cat and dog exposure and respiratory morbidities in cystic fibrosis. The Journal of Pediatrics. 165: 830-5.e2. PMID 25027361 DOI: 10.1016/J.Jpeds.2014.05.046 |
0.408 |
|
| 2014 |
Pittman JE, Cutting G, Davis SD, Ferkol T, Boucher R. Cystic fibrosis: NHLBI Workshop on the Primary Prevention of Chronic Lung Diseases. Annals of the American Thoracic Society. 11: S161-8. PMID 24754825 DOI: 10.1513/Annalsats.201312-444Ld |
0.4 |
|
| 2014 |
Cutting GR. Annotating DNA variants is the next major goal for human genetics. American Journal of Human Genetics. 94: 5-10. PMID 24387988 DOI: 10.1016/J.Ajhg.2013.12.008 |
0.346 |
|
| 2014 |
Sosnay PR, Cutting GR. Interpretation of genetic variants. Thorax. 69: 295-7. PMID 24343785 DOI: 10.1136/Thoraxjnl-2013-204903 |
0.38 |
|
| 2014 |
Sosnay P, Raraigh K, Vangoor F, Yu H, Penland C, Corey M, Lewis M, Castellani C, Rommens J, Cutting G. WS13.1 Patients with mutations that permit 3% or more of wild-type CFTR function are associated with higher FEV1 Journal of Cystic Fibrosis. 13: S27. DOI: 10.1016/S1569-1993(14)60082-5 |
0.357 |
|
| 2013 |
Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, ... ... Cutting GR, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nature Genetics. 45: 1160-7. PMID 23974870 DOI: 10.1038/Ng.2745 |
0.449 |
|
| 2013 |
Blackman SM, Commander CW, Watson C, Arcara KM, Strug LJ, Stonebraker JR, Wright FA, Rommens JM, Sun L, Pace RG, Norris SA, Durie PR, Drumm ML, Knowles MR, Cutting GR. Genetic modifiers of cystic fibrosis-related diabetes. Diabetes. 62: 3627-35. PMID 23670970 DOI: 10.2337/Db13-0510 |
0.393 |
|
| 2013 |
Collaco JM, Morrow CB, Green DM, Cutting GR, Mogayzel PJ. Environmental allergies and respiratory morbidities in cystic fibrosis. Pediatric Pulmonology. 48: 857-64. PMID 23143815 DOI: 10.1002/Ppul.22700 |
0.413 |
|
| 2012 |
Ferec C, Cutting GR. Assessing the Disease-Liability of Mutations in CFTR. Cold Spring Harbor Perspectives in Medicine. 2: a009480. PMID 23209179 DOI: 10.1101/Cshperspect.A009480 |
0.515 |
|
| 2012 |
Bradley GM, Blackman SM, Watson CP, Doshi VK, Cutting GR. Genetic modifiers of nutritional status in cystic fibrosis American Journal of Clinical Nutrition. 96: 1299-1308. PMID 23134884 DOI: 10.3945/Ajcn.112.043406 |
0.422 |
|
| 2012 |
Masica DL, Sosnay PR, Cutting GR, Karchin R. Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis. Human Mutation. 33: 1267-74. PMID 22573477 DOI: 10.1002/Humu.22110 |
0.453 |
|
| 2012 |
Romi H, Cohen I, Landau D, Alkrinawi S, Yerushalmi B, Hershkovitz R, Newman-Heiman N, Cutting GR, Ofir R, Sivan S, Birk OS. Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C. American Journal of Human Genetics. 90: 893-9. PMID 22521417 DOI: 10.1016/J.Ajhg.2012.03.022 |
0.447 |
|
| 2012 |
Sun L, Rommens JM, Corvol H, Li W, Li X, Chiang TA, Lin F, Dorfman R, Busson PF, Parekh RV, Zelenika D, Blackman SM, Corey M, Doshi VK, Henderson L, ... ... Cutting GR, et al. Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nature Genetics. 44: 562-9. PMID 22466613 DOI: 10.1038/Ng.2221 |
0.393 |
|
| 2012 |
Henderson LB, Doshi VK, Blackman SM, Naughton KM, Pace RG, Moskovitz J, Knowles MR, Durie PR, Drumm ML, Cutting GR. Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis. Plos Genetics. 8: e1002580. PMID 22438829 DOI: 10.1371/Journal.Pgen.1002580 |
0.434 |
|
| 2012 |
Green DM, Collaco JM, McDougal KE, Naughton KM, Blackman SM, Cutting GR. Heritability of respiratory infection with Pseudomonas aeruginosa in cystic fibrosis. The Journal of Pediatrics. 161: 290-5.e1. PMID 22364820 DOI: 10.1016/J.Jpeds.2012.01.042 |
0.776 |
|
| 2012 |
Ramsey BW, Banks-Schlegel S, Accurso FJ, Boucher RC, Cutting GR, Engelhardt JF, Guggino WB, Karp CL, Knowles MR, Kolls JK, LiPuma JJ, Lynch S, McCray PB, Rubenstein RC, Singh PK, et al. Future directions in early cystic fibrosis lung disease research: an NHLBI workshop report. American Journal of Respiratory and Critical Care Medicine. 185: 887-92. PMID 22312017 DOI: 10.1164/Rccm.201111-2068Ws |
0.443 |
|
| 2012 |
Collaco J, Cutting G. Environmental and Non-CFTR Modifiers of Cystic Fibrosis International Journal of Clinical Reviews. DOI: 10.5275/Ijcr.2012.10.04 |
0.421 |
|
| 2011 |
Auerbach AD, Burn J, Cassiman JJ, Claustres M, Cotton RG, Cutting G, den Dunnen JT, El-Ruby M, Vargas AF, Greenblatt MS, Macrae F, Matsubara Y, Rimoin DL, Vihinen M, Van Broeckhoven C. Mutation (variation) databases and registries: a rationale for coordination of efforts. Nature Reviews. Genetics. 12: 881; discussion 881. PMID 22025002 DOI: 10.1038/Nrg3011-C1 |
0.358 |
|
| 2011 |
Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JTR, Charnas L, ... ... Cutting G, et al. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism Molecular Genetics and Metabolism. 104: 160-166. PMID 21700483 DOI: 10.1016/J.Ymgme.2011.05.016 |
0.377 |
|
| 2011 |
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, et al. Recommendations for the classification of diseases as CFTR-related disorders. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. 10: S86-102. PMID 21658649 DOI: 10.1016/S1569-1993(11)60014-3 |
0.366 |
|
| 2011 |
Wright FA, Strug LJ, Doshi VK, Commander CW, Blackman SM, Sun L, Berthiaume Y, Cutler D, Cojocaru A, Collaco JM, Corey M, Dorfman R, Goddard K, Green D, Kent JW, ... ... Cutting GR, et al. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nature Genetics. 43: 539-46. PMID 21602797 DOI: 10.1038/Ng.838 |
0.364 |
|
| 2011 |
Sosnay PR, Castellani C, Corey M, Dorfman R, Zielenski J, Karchin R, Penland CM, Cutting GR. Evaluation of the disease liability of CFTR variants. Methods in Molecular Biology (Clifton, N.J.). 742: 355-72. PMID 21547743 DOI: 10.1007/978-1-61779-120-8_21 |
0.471 |
|
| 2011 |
Taylor C, Commander CW, Collaco JM, Strug LJ, Li W, Wright FA, Webel AD, Pace RG, Stonebraker JR, Naughton K, Dorfman R, Sandford A, Blackman SM, Berthiaume Y, Paré P, ... ... Cutting GR, et al. A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis genetic modifier studies. Pediatric Pulmonology. 46: 857-69. PMID 21462361 DOI: 10.1002/Ppul.21456 |
0.466 |
|
| 2011 |
Sheridan MB, Hefferon TW, Wang N, Merlo C, Milla C, Borowitz D, Green ED, Mogayzel PJ, Cutting GR. CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR. Journal of Medical Genetics. 48: 235-41. PMID 21097845 DOI: 10.1136/Jmg.2010.083287 |
0.823 |
|
| 2011 |
Li W, Sun L, Corey M, Zou F, Lee S, Cojocaru AL, Taylor C, Blackman SM, Stephenson A, Sandford AJ, Dorfman R, Drumm ML, Cutting GR, Knowles MR, Durie P, et al. Understanding the population structure of North American patients with cystic fibrosis. Clinical Genetics. 79: 136-46. PMID 20681990 DOI: 10.1111/J.1399-0004.2010.01502.X |
0.394 |
|
| 2011 |
Collaco JM, Green DM, Cutting GR, Naughton KM, Mogayzel PJ. Location and Duration of Treatment of Cystic Fibrosis Respiratory Exacerbations American Journal of Respiratory and Critical Care Medicine. 184: 279-279. DOI: 10.1164/Ajrccm.184.2.279 |
0.355 |
|
| 2010 |
Cutting GR. Modifier genes in Mendelian disorders: the example of cystic fibrosis. Annals of the New York Academy of Sciences. 1214: 57-69. PMID 21175684 DOI: 10.1111/J.1749-6632.2010.05879.X |
0.45 |
|
| 2010 |
Lassance-Soares RM, Cheng J, Krasnov K, Cebotaru L, Cutting GR, Souza-Menezes J, Morales MM, Guggino WB. 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. 26: 577-86. PMID 21063095 DOI: 10.1159/000322325 |
0.771 |
|
| 2010 |
Green DM, McDougal KE, Blackman SM, Sosnay PR, Henderson LB, Naughton KM, Collaco JM, Cutting GR. Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients. Respiratory Research. 11: 140. PMID 20932301 DOI: 10.1186/1465-9921-11-140 |
0.805 |
|
| 2010 |
Paalman MH, Cotton RG, Cutting GR. On genomic DNA paradigms, research publications, and scholarly inquiry. Human Mutation. 31: 1089. PMID 20824776 DOI: 10.1002/Humu.21353 |
0.313 |
|
| 2010 |
Collaco JM, Green DM, Cutting GR, Naughton KM, Mogayzel PJ. Location and duration of treatment of cystic fibrosis respiratory exacerbations do not affect outcomes. American Journal of Respiratory and Critical Care Medicine. 182: 1137-43. PMID 20581166 DOI: 10.1164/Rccm.201001-0057Oc |
0.34 |
|
| 2010 |
Collaco JM, Blackman SM, McGready J, Naughton KM, Cutting GR. Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function. The Journal of Pediatrics. 157: 802-7.e1-3. PMID 20580019 DOI: 10.1016/J.Jpeds.2010.05.018 |
0.4 |
|
| 2010 |
Castellani C, Macek M, Cassiman JJ, Duff A, Massie J, ten Kate LP, Barton D, Cutting G, Dallapiccola B, Dequeker E, Girodon E, Grody W, Highsmith EW, Kääriäinen H, Kruip S, et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. 9: 165-78. PMID 20363197 DOI: 10.1016/J.Jcf.2010.02.005 |
0.308 |
|
| 2010 |
Kloch M, Milewski M, Nurowska E, Dworakowska B, Cutting GR, Dołowy K. 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. 25: 169-80. PMID 20110677 DOI: 10.1159/000276549 |
0.318 |
|
| 2010 |
McDougal KE, Green DM, Vanscoy LL, Fallin MD, Grow M, Cheng S, Blackman SM, Collaco JM, Henderson LB, Naughton K, Cutting GR. 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. 18: 680-4. PMID 20068595 DOI: 10.1038/Ejhg.2009.226 |
0.801 |
|
| 2010 |
Quemener S, Chen JM, Chuzhanova N, Bénech C, Casals T, Macek M, Bienvenu T, McDevitt T, Farrell PM, Loumi O, Messaoud T, Cuppens H, Cutting GR, Stenson PD, Giteau K, et al. Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Human Mutation. 31: 421-8. PMID 20052766 DOI: 10.1002/Humu.21196 |
0.453 |
|
| 2009 |
Dorfman R, Li W, Sun L, Lin F, Wang Y, Sandford A, Paré PD, McKay K, Kayserova H, Piskackova T, Macek M, Czerska K, Sands D, Tiddens H, Margarit S, ... ... Cutting GR, et al. Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results. Human Genetics. 126: 763-78. PMID 19662435 DOI: 10.1007/S00439-009-0724-8 |
0.422 |
|
| 2009 |
Blackman SM, Hsu S, Ritter SE, Naughton KM, Wright FA, Drumm ML, Knowles MR, Cutting GR. A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis. Diabetologia. 52: 1858-65. PMID 19585101 DOI: 10.1007/S00125-009-1436-2 |
0.333 |
|
| 2009 |
Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR. A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. American Journal of Medical Genetics. Part A. 149: 1624-7. PMID 19572402 DOI: 10.1002/Ajmg.A.32834 |
0.775 |
|
| 2009 |
Cutting GR. Genetic heterogeneity and cystic fibrosis. Human Mutation. 30: v. PMID 19551760 DOI: 10.1002/Humu.21062 |
0.388 |
|
| 2009 |
Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, ... ... Cutting G, et al. Planning the human variome project: the Spain report. Human Mutation. 30: 496-510. PMID 19306394 DOI: 10.1002/Humu.20972 |
0.305 |
|
| 2009 |
Gu Y, Harley IT, Henderson LB, Aronow BJ, Vietor I, Huber LA, Harley JB, Kilpatrick JR, Langefeld CD, Williams AH, Jegga AG, Chen J, Wills-Karp M, Arshad SH, Ewart SL, ... ... Cutting GR, et al. Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature. 458: 1039-42. PMID 19242412 DOI: 10.1038/Nature07811 |
0.466 |
|
| 2009 |
McDougal KE, Fallin MD, Moller DR, Song Z, Cutler DJ, Steiner LL, Cutting GR. Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis. The Journal of Investigative Dermatology. 129: 1921-6. PMID 19225544 DOI: 10.1038/Jid.2008.456 |
0.78 |
|
| 2009 |
Blackman SM, Hsu S, Vanscoy LL, Collaco JM, Ritter SE, Naughton K, Cutting GR. Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis. The Journal of Clinical Endocrinology and Metabolism. 94: 1302-9. PMID 19126627 DOI: 10.1210/Jc.2008-2186 |
0.369 |
|
| 2009 |
Abman S, Jobe A, Chernick V, Blaisdell C, Castro M, Ramirez MI, Gern JE, Cutting G, Redding G, Hagood JS, Whitsett J, Abman S, Raj JU, Barst R, Kato GJ, et al. Strategic plan for pediatric respiratory diseases research: an NHLBI working group report. Pediatric Pulmonology. 44: 2-13. PMID 19086051 DOI: 10.1002/Ppul.20973 |
0.309 |
|
| 2008 |
Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Gibson RL, Marshall SG, Cutting GR. Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 851-68. PMID 19092437 DOI: 10.1097/Gim.0B013E31818E55A2 |
0.473 |
|
| 2008 |
Krasnov KV, Tzetis M, Cheng J, Guggino WB, Cutting GR. Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships. Human Mutation. 29: 1364-72. PMID 18951463 DOI: 10.1002/Humu.20866 |
0.812 |
|
| 2008 |
Collaco JM, Cutting GR. Update on gene modifiers in cystic fibrosis. Current Opinion in Pulmonary Medicine. 14: 559-66. PMID 18812833 DOI: 10.1097/Mcp.0B013E3283121Cdc |
0.44 |
|
| 2008 |
Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. The Journal of Pediatrics. 153: S4-S14. PMID 18639722 DOI: 10.1016/J.Jpeds.2008.05.005 |
0.462 |
|
| 2008 |
Castellani C, Cuppens H, Macek M, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, et al. 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. 7: 179-96. PMID 18456578 DOI: 10.1016/J.Jcf.2008.03.009 |
0.45 |
|
| 2008 |
Bremer LA, Blackman SM, Vanscoy LL, McDougal KE, Bowers A, Naughton KM, Cutler DJ, Cutting GR. Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Human Molecular Genetics. 17: 2228-37. PMID 18424453 DOI: 10.1093/Hmg/Ddn123 |
0.8 |
|
| 2008 |
Collaco JM, Vanscoy L, Bremer L, McDougal K, Blackman SM, Bowers A, Naughton K, Jennings J, Ellen J, Cutting GR. Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease. Jama. 299: 417-24. PMID 18230779 DOI: 10.1001/Jama.299.4.417 |
0.803 |
|
| 2008 |
Schwarz M, Castellani C, Cuppens H, Macek M, Cassiman J, Kerem E, Durie P, Tullis E, Assael B, Bombieri C, Brown A, Casals T, Claustres M, Cutting G, Dodge J, et al. EUROPEAN CYSTIC FIBROSIS SOCIETY CONSENSUS ON GENETIC TESTING Journal of Cystic Fibrosis. 7: S7. DOI: 10.1016/S1569-1993(08)60496-8 |
0.356 |
|
| 2008 |
Cutting GR, Cotton RGH. A new cover and new challenges for Human Mutation Human Mutation. 29: 1-1. DOI: 10.1002/Humu.20697 |
0.304 |
|
| 2007 |
Grody WW, Cutting GR, Watson MS. The Cystic Fibrosis mutation "arms race": when less is more. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 739-44. PMID 18007142 DOI: 10.1097/Gim.0B013E318159A331 |
0.4 |
|
| 2007 |
Hsu SC, Groman JD, Merlo CA, Naughton K, Zeitlin PL, Germain-Lee EL, Boyle MP, Cutting GR. 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. 92: 3941-8. PMID 17652219 DOI: 10.1210/Jc.2007-0271 |
0.793 |
|
| 2007 |
Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K, Algire M, McWilliams R, Beck S, Hoover-Fong J, Hamosh A, Cutler D, Cutting GR. Heritability of lung disease severity in cystic fibrosis. American Journal of Respiratory and Critical Care Medicine. 175: 1036-43. PMID 17332481 DOI: 10.1164/Rccm.200608-1164Oc |
0.677 |
|
| 2007 |
Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, et al. PhenCode: connecting ENCODE data with mutations and phenotype. Human Mutation. 28: 554-62. PMID 17326095 DOI: 10.1002/Humu.20484 |
0.391 |
|
| 2007 |
Buranawuti K, Boyle MP, Cheng S, Steiner LL, McDougal K, Fallin MD, Merlo C, Zeitlin PL, Rosenstein BJ, Mogayzel PJ, Wang X, Cutting GR. Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis. Journal of Medical Genetics. 44: 209-14. PMID 17158822 DOI: 10.1136/Jmg.2006.046318 |
0.81 |
|
| 2007 |
Cutting GR. Future challenges for human mutation research Human Mutation. 28: 929-930. DOI: 10.1002/Humu.20630 |
0.313 |
|
| 2006 |
Blackman SM, Deering-Brose R, McWilliams R, Naughton K, Coleman B, Lai T, Algire M, Beck S, Hoover-Fong J, Hamosh A, Fallin MD, West K, Arking DE, Chakravarti A, Cutler DJ, ... Cutting GR, et al. Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology. 131: 1030-9. PMID 17030173 DOI: 10.1053/J.Gastro.2006.07.016 |
0.681 |
|
| 2006 |
Férec C, Casals T, Chuzhanova N, Macek M, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, ... ... Cutting GR, et al. 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. 14: 567-76. PMID 16493442 DOI: 10.1038/Sj.Ejhg.5201590 |
0.796 |
|
| 2006 |
Cutting GR. Causes of Variation in the Cystic Fibrosis Phenotype Annales Nestlé (English Ed.). 64: 111-117. DOI: 10.1159/000095375 |
0.347 |
|
| 2006 |
Cutting GR. Cystic Fibrosis: Using genetic association to identify modifiers of disease variability in cystic fibrosis European Journal of Human Genetics. 14: 890-891. DOI: 10.1038/Sj.Ejhg.5201656 |
0.446 |
|
| 2005 |
Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Human Molecular Genetics. 14: 3493-8. PMID 16207733 DOI: 10.1093/Hmg/Ddi374 |
0.804 |
|
| 2005 |
Cutting GR. Modifier genetics: cystic fibrosis. Annual Review of Genomics and Human Genetics. 6: 237-60. PMID 16124861 DOI: 10.1146/Annurev.Genom.6.080604.162254 |
0.496 |
|
| 2005 |
Groman JD, Karczeski B, Sheridan M, Robinson TE, Fallin MD, Cutting GR. Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis. The Journal of Pediatrics. 146: 675-80. PMID 15870673 DOI: 10.1016/J.Jpeds.2004.12.020 |
0.815 |
|
| 2005 |
Gallegos-Orozco JF, E Yurk C, Wang N, Rakela J, Charlton MR, Cutting GR, Balan V. Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis. The American Journal of Gastroenterology. 100: 874-8. PMID 15784035 DOI: 10.1111/j.1572-0241.2005.41072.x |
0.4 |
|
| 2005 |
Wang X, Kim J, McWilliams R, Cutting GR. Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation. Archives of Otolaryngology--Head & Neck Surgery. 131: 237-40. PMID 15781764 DOI: 10.1001/Archotol.131.3.237 |
0.436 |
|
| 2005 |
Milewski MI, Lopez A, Jurkowska M, Larusch J, Cutting GR. PDZ-binding motifs are unable to ensure correct polarized protein distribution in the absence of additional localization signals. Febs Letters. 579: 483-7. PMID 15642363 DOI: 10.1016/J.Febslet.2004.11.106 |
0.694 |
|
| 2004 |
Groman JD, Bolger W, Brass-Ernst L, Macek M, Zeitlin P, Cutting G. 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. 131: 1009-11. PMID 15577807 DOI: 10.1016/J.Otohns.2004.02.031 |
0.753 |
|
| 2004 |
Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Molecular Genetics and Metabolism. 83: 252-263. PMID 15542397 DOI: 10.1016/J.Ymgme.2004.08.008 |
0.427 |
|
| 2004 |
Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, ... ... Cutting GR, et al. Quantitative methods for the analysis of CFTR transcripts/splicing variants. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. 3: 17-23. PMID 15463919 DOI: 10.1016/J.Jcf.2004.05.047 |
0.77 |
|
| 2004 |
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Cystic fibrosis population carrier screening: 2004 Revision of American College of Medical Genetics mutation panel Genetics in Medicine. 6: 387-391. PMID 15371902 DOI: 10.1097/01.Gim.0000139506.11694.7C |
0.372 |
|
| 2004 |
Zhou Y, Law HY, Boehm CD, Yoon CS, Cutting GR, Ng IS, Chong SS. Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay. Journal of Medical Genetics. 41: e45. PMID 15060121 DOI: 10.1136/Jmg.2003.012716 |
0.345 |
|
| 2004 |
Hefferon TW, Groman JD, Yurk CE, Cutting GR. 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. 101: 3504-9. PMID 14993601 DOI: 10.1073/Pnas.0400182101 |
0.774 |
|
| 2004 |
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, ... ... Cutting GR, et al. 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. 74: 176-179. PMID 14685937 DOI: 10.1086/381001 |
0.789 |
|
| 2003 |
McWilliams R, Hoover-Fong J, Hamosh A, Beck S, Beaty T, Cutting G. Problematic variation in local institutional review of a multicenter genetic epidemiology study. Jama. 290: 360-6. PMID 12865377 DOI: 10.1001/Jama.290.3.360 |
0.602 |
|
| 2002 |
Ramalho AS, Beck S, Meyer M, Penque D, Cutting GR, Amaral MD. 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. 27: 619-27. PMID 12397022 DOI: 10.1165/Rcmb.2001-0004Oc |
0.434 |
|
| 2002 |
Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. The New England Journal of Medicine. 347: 401-7. PMID 12167682 DOI: 10.1056/Nejmoa011899 |
0.837 |
|
| 2002 |
Swiatecka-Urban A, Duhaime M, Coutermarsh B, Karlson KH, Collawn J, Milewski M, Cutting GR, Guggino WB, Langford G, Stanton BA. PDZ domain interaction controls the endocytic recycling of the cystic fibrosis transmembrane conductance regulator. The Journal of Biological Chemistry. 277: 40099-105. PMID 12167629 DOI: 10.1074/Jbc.M206964200 |
0.331 |
|
| 2002 |
Wang X, Myers A, Saiki RK, Cutting GR. 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. 48: 1121-3. PMID 12089190 DOI: 10.1093/Clinchem/48.7.1121 |
0.495 |
|
| 2002 |
Hefferon TW, Broackes-Carter FC, Harris A, Cutting GR. Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping. American Journal of Human Genetics. 71: 294-303. PMID 12068373 DOI: 10.1086/341664 |
0.774 |
|
| 2002 |
Eaton TE, Miller PW, Garrett JE, Cutting GR. Cystic fibrosis transmembrane conductance regulator gene mutations: Do they play a role in the aetiology of allergic bronchopulmonary aspergillosis? Clinical and Experimental Allergy. 32: 756-761. PMID 11994102 DOI: 10.1046/J.1365-2222.2002.01361.X |
0.486 |
|
| 2002 |
Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, et al. 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. 70: 1520-31. PMID 11992258 DOI: 10.1086/340849 |
0.413 |
|
| 2002 |
Cheng J, Moyer BD, Milewski M, Loffing J, Ikeda M, Mickle JE, Cutting GR, Li M, Stanton BA, Guggino WB. A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. The Journal of Biological Chemistry. 277: 3520-9. PMID 11707463 DOI: 10.1074/Jbc.M110177200 |
0.333 |
|
| 2001 |
Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Human Mutation. 18: 499-515. PMID 11748843 DOI: 10.1002/Humu.1227 |
0.4 |
|
| 2001 |
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening Genetics in Medicine. 3: 149-154. PMID 11280952 DOI: 10.1097/00125817-200103000-00010 |
0.42 |
|
| 2001 |
Heath JA, Beaverson K, Giardina P, Boehm C, Cutting G. 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. 67: 57-8. PMID 11279660 DOI: 10.1002/Ajh.1078 |
0.31 |
|
| 2000 |
Wang X, Moylan B, Leopold DA, Kim J, Rubenstein RC, Togias A, Proud D, Zeitlin PL, Cutting GR. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. Jama. 284: 1814-9. PMID 11025834 DOI: 10.1001/Jama.284.14.1814 |
0.398 |
|
| 2000 |
Mickle JE, Cutting GR. Genotype-phenotype relationships in cystic fibrosis. The Medical Clinics of North America. 84: 597-607. PMID 10872417 DOI: 10.1016/S0025-7125(05)70243-1 |
0.528 |
|
| 2000 |
Moyer BD, Duhaime M, Shaw C, Denton J, Reynolds D, Karlson KH, Pfeiffer J, Wang S, Mickle JE, Milewski M, Cutting GR, Guggino WB, Li M, Stanton BA. 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. 275: 27069-74. PMID 10852925 DOI: 10.1074/Jbc.M004951200 |
0.348 |
|
| 2000 |
Mickle JE, Milewski MI, Macek M, Cutting GR. 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. 66: 1485-95. PMID 10762539 DOI: 10.1086/302893 |
0.471 |
|
| 2000 |
Chong SS, Boehm CD, Cutting GR, Higgs DR. Sequence characterization of the –THAIallele of athalassemia and rapid detection using a single-tube multiplex-PCR assay Genetics in Medicine. 2: 103-103. DOI: 10.1097/00125817-200001000-00188 |
0.315 |
|
| 1999 |
Moyer BD, Denton J, Karlson KH, Reynolds D, Wang S, Mickle JE, Milewski M, Cutting GR, Guggino WB, Li M, Stanton BA. A PDZ-interacting domain in CFTR is an apical membrane polarization signal. The Journal of Clinical Investigation. 104: 1353-61. PMID 10562297 DOI: 10.1172/Jci7453 |
0.348 |
|
| 1999 |
Kniazeva MF, Chiang MF, Cutting GR, Zack DJ, Han M, Zhang K. Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Ophthalmic Genetics. 20: 71-81. PMID 10420191 DOI: 10.1076/Opge.20.2.71.2287 |
0.333 |
|
| 1999 |
Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Molecular Genetics and Metabolism. 66: 128-36. PMID 10068516 DOI: 10.1006/Mgme.1998.2779 |
0.303 |
|
| 1998 |
Mickle JE, Cutting GR. Clinical implications of cystic fibrosis transmembrane conductance regulator mutations. Clinics in Chest Medicine. 19: 443-58, v. PMID 9759548 DOI: 10.1016/S0272-5231(05)70092-7 |
0.524 |
|
| 1998 |
Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. The Journal of Pediatrics. 132: 589-95. PMID 9580754 DOI: 10.1016/S0022-3476(98)70344-0 |
0.425 |
|
| 1998 |
Schwiebert EM, Cid-Soto LP, Stafford D, Carter M, Blaisdell CJ, Zeitlin PL, Guggino WB, Cutting GR. 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. 95: 3879-84. PMID 9520461 DOI: 10.1073/Pnas.95.7.3879 |
0.354 |
|
| 1998 |
Hamosh A, FitzSimmons SC, Macek M, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. The Journal of Pediatrics. 132: 255-9. PMID 9506637 DOI: 10.1016/S0022-3476(98)70441-X |
0.39 |
|
| 1998 |
Mickle JE, Macek M, Fulmer-Smentek SB, Egan MM, Schwiebert E, Guggino W, Moss R, Cutting GR. 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. 7: 729-35. PMID 9499426 DOI: 10.1093/Hmg/7.4.729 |
0.539 |
|
| 1997 |
Macek M, Macek M, Krebsová A, Nash E, Hamosh A, Reis A, Varon-Mateeva R, Schmidtke J, Maestri NE, Sperling K, Krawczak M, Cutting GR. Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival. Human Genetics. 99: 565-72. PMID 9150719 DOI: 10.1007/S004390050407 |
0.358 |
|
| 1997 |
Macek M, Mercier B, Macková A, Miller PW, Hamosh A, Férec C, Cutting GR. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Human Mutation. 9: 136-47. PMID 9067754 DOI: 10.1002/(Sici)1098-1004(1997)9:2<136::Aid-Humu6>3.0.Co;2-7 |
0.428 |
|
| 1996 |
Kearns WG, Afione SA, Fulmer SB, Pang MC, Erikson D, Egan M, Landrum MJ, Flotte TR, Cutting GR. Recombinant adeno-associated virus (AAV-CFTR) vectors do not integrate in a site-specific fashion in an immortalized epithelial cell line. Gene Therapy. 3: 748-55. PMID 8875221 |
0.718 |
|
| 1996 |
Morales MM, Carroll TP, Morita T, Schwiebert EM, Devuyst O, Wilson PD, Lopes AG, Stanton BA, Dietz HC, Cutting GR, Guggino WB. Both the wild type and a functional isoform of CFTR are expressed in kidney. The American Journal of Physiology. 270: F1038-48. PMID 8764323 DOI: 10.1152/Ajprenal.1996.270.6.F1038 |
0.377 |
|
| 1995 |
Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR. Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues. Human Molecular Genetics. 4: 407-13. PMID 7795595 DOI: 10.1093/Hmg/4.3.407 |
0.366 |
|
| 1995 |
Smit LS, Strong TV, Wilkinson DJ, Macek M, Mansoura MK, Wood DL, Cole JL, Cutting GR, Cohn JA, Dawson DC. Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity. Human Molecular Genetics. 4: 269-73. PMID 7757078 DOI: 10.1093/Hmg/4.2.269 |
0.449 |
|
| 1995 |
Fulmer SB, Schwiebert EM, Morales MM, Guggino WB, Cutting GR. 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. 92: 6832-6. PMID 7542778 DOI: 10.1073/Pnas.92.15.6832 |
0.484 |
|
| 1995 |
Carroll TP, Morales MM, Fulmer SB, Allen SS, Flotte TR, Cutting GR, Guggino WB. Alternate translation initiation codons can create functional forms of cystic fibrosis transmembrane conductance regulator. The Journal of Biological Chemistry. 270: 11941-6. PMID 7538127 DOI: 10.1074/Jbc.270.20.11941 |
0.359 |
|
| 1994 |
Schwiebert EM, Flotte T, Cutting GR, Guggino WB. Both CFTR and outwardly rectifying chloride channels contribute to cAMP- stimulated whole cell chloride currents American Journal of Physiology - Cell Physiology. 266. PMID 7515570 DOI: 10.1152/Ajpcell.1994.266.5.C1464 |
0.356 |
|
| 1994 |
Carroll TP, McIntosh I, Egan ME, Zeitlin PL, Cutting GR, Guggino WB. Transmembrane mutations alter the channel characteristics of the cystic fibrosis transmembrane conductance regulator expressed in Xenopus oocytes Cellular Physiology and Biochemistry. 4: 10-18. DOI: 10.1159/000154705 |
0.401 |
|
| 1993 |
Dietz HC, Valle D, Francomano CA, Kendzior RJ, Pyeritz RE, Cutting GR. The skipping of constitutive exons in vivo induced by nonsense mutations. Science (New York, N.Y.). 259: 680-3. PMID 8430317 DOI: 10.1126/Science.8430317 |
0.418 |
|
| 1993 |
Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genetics. 3: 151-6. PMID 7684646 DOI: 10.1038/Ng0293-151 |
0.434 |
|
| 1993 |
Cutting GR. Spectrum of mutations in cystic fibrosis. Journal of Bioenergetics and Biomembranes. 25: 7-10. PMID 7680032 DOI: 10.1007/Bf00768062 |
0.518 |
|
| 1993 |
Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Human Mutation. 1: 366-74. PMID 1301946 DOI: 10.1002/Humu.1380010504 |
0.404 |
|
| 1993 |
Hamosh A, Rosenstein BJ, Cutting GR. CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Human Molecular Genetics. 1: 542-4. PMID 1284888 DOI: 10.1093/Hmg/1.7.542 |
0.412 |
|
| 1993 |
Cutting GR. Two steps closer to gene therapy for cystic fibrosis. Nature Genetics. 2: 4-5. PMID 1284643 DOI: 10.1038/Ng0992-4 |
0.353 |
|
| 1993 |
Macek M, Hamosh A, Kiesewetter S, McIntosh I, Rosenstein BJ, Cutting GR. 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. 1: 501-2. PMID 1284542 DOI: 10.1002/Humu.1380010608 |
0.485 |
|
| 1992 |
Nunes V, Gaona A, Chillon M, Maña P, Casals T, Cutting G, Estivill X. Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations. Prenatal Diagnosis. 11: 671-2. PMID 1766939 DOI: 10.1002/Pd.1970110827 |
0.443 |
|
| 1992 |
Cutting GR, Antonarakis SE. Prenatal diagnosis and carrier detection by DNA analysis. Pediatrics in Review. 13: 138-43. PMID 1626008 DOI: 10.1542/PIR.13-4-138 |
0.343 |
|
| 1992 |
Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. 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. 89: 1674-80. PMID 1569206 DOI: 10.1172/Jci115766 |
0.431 |
|
| 1992 |
Chu CS, Trapnell BC, Curristin SM, Cutting GR, Crystal RG. 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. 90: 785-90. PMID 1381723 DOI: 10.1172/Jci115952 |
0.387 |
|
| 1992 |
McIntosh I, Cutting GR. 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. 6: 2775-82. PMID 1378801 DOI: 10.1096/fasebj.6.10.1378801 |
0.392 |
|
| 1992 |
Lerer I, Sagi M, Cutting GR, Abeliovich D. Cystic fibrosis mutations delta F508 and G542X in Jewish patients. Journal of Medical Genetics. 29: 131-3. PMID 1377276 DOI: 10.1136/Jmg.29.2.131 |
0.435 |
|
| 1992 |
Zeitlin PL, Crawford I, Lu L, Woel S, Cohen ME, Donowitz M, Montrose MH, Hamosh A, Cutting GR, Gruenert D. CFTR protein expression in primary and cultured epithelia. Proceedings of the National Academy of Sciences of the United States of America. 89: 344-7. PMID 1370353 DOI: 10.1073/Pnas.89.1.344 |
0.349 |
|
| 1992 |
Dietz HC, Pyeritz RE, Cutting GR, Francomano CA. Mutations in the fibrillin gene and variability of the Marfan syndrome Journal of Molecular and Cellular Cardiology. 24: S76. DOI: 10.1016/0022-2828(92)91721-G |
0.392 |
|
| 1991 |
McColley SA, Rosenstein BJ, Cutting GR. Differences in expression of cystic fibrosis in blacks and whites. American Journal of Diseases of Children (1960). 145: 94-7. PMID 1985439 DOI: 10.1001/Archpedi.1991.02160010100025 |
0.447 |
|
| 1991 |
Zeitlin PL, Lu L, Rhim J, Cutting G, Stetten G, Kieffer KA, Craig R, Guggino WB. A cystic fibrosis bronchial epithelial cell line: immortalization by adeno-12-SV40 infection American Journal of Respiratory Cell and Molecular Biology. 4: 313-319. PMID 1849726 DOI: 10.1165/Ajrcmb/4.4.313 |
0.356 |
|
| 1991 |
Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR. 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 Journal of Clinical Investigation. 88: 1880-1885. PMID 1721624 DOI: 10.1172/Jci115510 |
0.532 |
|
| 1991 |
Reiss J, Cooper DN, Bal J, Slomski R, Cutting GR, Krawczak M. Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Human Genetics. 87: 457-461. PMID 1715309 DOI: 10.1007/Bf00197168 |
0.451 |
|
| 1990 |
Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH, Antonarakis SE. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. The New England Journal of Medicine. 323: 1685-9. PMID 2233965 DOI: 10.1056/Nejm199012133232407 |
0.498 |
|
| 1990 |
Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature. 346: 366-9. PMID 1695717 DOI: 10.1038/346366A0 |
0.465 |
|
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