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Items: 1 to 50 of 166

1.

Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.

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, Stephenson AL, Sosnay PR, Cutting GR.

Am J Respir Crit Care Med. 2019 May 1;199(9):1116-1126. doi: 10.1164/rccm.201901-0145OC.

PMID:
30888834
2.

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.

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, Polineni D, Blackman SM, Corvol H, Cutting GR, Drumm M, Knowles MR, Rommens JM, Sun L, Strug LJ.

PLoS Genet. 2019 Feb 26;15(2):e1008007. doi: 10.1371/journal.pgen.1008007. eCollection 2019 Feb.

3.

Gastric Embolization as Treatment for Overweight Patients; Efficacy and Safety.

Elens S, Roger T, Elens M, Rommens J, Sarafidis A, Capelluto E, Delcour C.

Cardiovasc Intervent Radiol. 2019 Apr;42(4):513-519. doi: 10.1007/s00270-018-2130-x. Epub 2018 Nov 28.

PMID:
30488305
4.

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

Kerschner JL, Ghosh S, Paranjapye A, Cosme WR, Audrézet MP, Nakakuki M, Ishiguro H, Férec C, Rommens J, Harris A.

J Mol Diagn. 2019 Jan;21(1):70-80. doi: 10.1016/j.jmoldx.2018.08.011. Epub 2018 Oct 5.

PMID:
30296588
5.

SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion.

Ahmadi S, Xia S, Wu YS, Di Paola M, Kissoon R, Luk C, Lin F, Du K, Rommens J, Bear CE.

Elife. 2018 Jul 13;7. pii: e37963. doi: 10.7554/eLife.37963.

6.

Postmortem fetal magnetic resonance imaging: where do we stand?

D'Hondt A, Cassart M, De Maubeuge R, Soto Ares G, Rommens J, Avni EF.

Insights Imaging. 2018 Aug;9(4):591-598. doi: 10.1007/s13244-018-0627-0. Epub 2018 Jun 4. Review.

7.

Improving imputation in disease-relevant regions: lessons from cystic fibrosis.

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, Knowles M, Cutting G, Rommens JM, Sun L, Strug LJ.

NPJ Genom Med. 2018 Mar 20;3:8. doi: 10.1038/s41525-018-0047-6. eCollection 2018.

8.

Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia.

Ahmadi S, Bozoky Z, Di Paola M, Xia S, Li C, Wong AP, Wellhauser L, Molinski SV, Ip W, Ouyang H, Avolio J, Forman-Kay JD, Ratjen F, Hirota JA, Rommens J, Rossant J, Gonska T, Moraes TJ, Bear CE.

NPJ Genom Med. 2017 Apr 14;2:12. doi: 10.1038/s41525-017-0015-6.

9.

Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics.

Strug LJ, Gonska T, He G, Keenan K, Ip W, Boëlle PY, Lin F, Panjwani N, Gong J, Li W, Soave D, Xiao B, Tullis E, Rabin H, Parkins MD, Price A, Zuberbuhler PC, Corvol H, Ratjen F, Sun L, Bear CE, Rommens JM.

Hum Mol Genet. 2016 Oct 15;25(20):4590-4600. doi: 10.1093/hmg/ddw290.

10.

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y.

Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. No abstract available.

11.

SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.

Calamita P, Miluzio A, Russo A, Pesce E, Ricciardi S, Khanim F, Cheroni C, Alfieri R, Mancino M, Gorrini C, Rossetti G, Peluso I, Pagani M, Medina DL, Rommens J, Biffo S.

PLoS Genet. 2017 Jan 5;13(1):e1006552. doi: 10.1371/journal.pgen.1006552. eCollection 2017 Jan.

12.

Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.

Collaco JM, Blackman SM, Raraigh KS, Corvol H, Rommens JM, Pace RG, Boelle PY, McGready J, Sosnay PR, Strug LJ, Knowles MR, Cutting GR.

Am J Respir Crit Care Med. 2016 Dec 1;194(11):1375-1382.

13.

Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk.

Nguyen TL, Aung YK, Evans CF, Dite GS, Stone J, MacInnis RJ, Dowty JG, Bickerstaffe A, Aujard K, Rommens JM, Song YM, Sung J, Jenkins MA, Southey MC, Giles GG, Apicella C, Hopper JL.

Int J Epidemiol. 2017 Apr 1;46(2):652-661. doi: 10.1093/ije/dyw212.

14.

Bias in CFTR screening panels.

Sosnay PR, Castellani C, Penland CM, Rommens JM, Lewis M, Raraigh KS, Corey M, Cutting GR.

Genet Med. 2016 Feb;18(2):209. doi: 10.1038/gim.2015.105. Epub 2015 Oct 29. No abstract available.

15.

Editorial overview: Molecular and genetic bases of disease: Enter the post-GWAS era.

Arking D, Rommens J.

Curr Opin Genet Dev. 2015 Aug;33:77-9. doi: 10.1016/j.gde.2015.10.001. Epub 2015 Nov 9. No abstract available.

PMID:
26496009
16.

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.

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, Li W, Lin F, Patrone MV, Raraigh KS, Sun L, Zhou YH, O'Neal WK, Sontag MK, Levy H, Durie PR, Rommens JM, Drumm ML, Wright FA, Strug LJ, Cutting GR, Knowles MR.

Nat Commun. 2015 Sep 29;6:8382. doi: 10.1038/ncomms9382.

17.

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.

Zambetti NA, Bindels EM, Van Strien PM, Valkhof MG, Adisty MN, Hoogenboezem RM, Sanders MA, Rommens JM, Touw IP, Raaijmakers MH.

Haematologica. 2015 Oct;100(10):1285-93. doi: 10.3324/haematol.2015.131573. Epub 2015 Jul 16.

18.

A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways.

Soave D, Corvol H, Panjwani N, Gong J, Li W, Boëlle PY, Durie PR, Paterson AD, Rommens JM, Strug LJ, Sun L.

Am J Hum Genet. 2015 Jul 2;97(1):125-38. doi: 10.1016/j.ajhg.2015.05.015.

19.

Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.

Dupuis A, Keenan K, Ooi CY, Dorfman R, Sontag MK, Naehrlich L, Castellani C, Strug LJ, Rommens JM, Gonska T.

Genet Med. 2016 Apr;18(4):333-40. doi: 10.1038/gim.2015.79. Epub 2015 Jun 18.

PMID:
26087176
20.

In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.

Tourlakis ME, Zhang S, Ball HL, Gandhi R, Liu H, Zhong J, Yuan JS, Guidos CJ, Durie PR, Rommens JM.

PLoS Genet. 2015 Jun 9;11(6):e1005288. doi: 10.1371/journal.pgen.1005288. eCollection 2015 Jun.

21.

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

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, Sontag MK, Strug LJ.

J Pediatr. 2015 May;166(5):1152-1157.e6. doi: 10.1016/j.jpeds.2015.01.044. Epub 2015 Mar 11.

22.

Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.

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, Strug LJ, Sun W, Stonebraker JR, Wright FA, Knowles MR.

Am J Hum Genet. 2015 Feb 5;96(2):318-28. doi: 10.1016/j.ajhg.2014.12.022. Epub 2015 Jan 29.

23.

Evidence for a causal relationship between early exocrine pancreatic disease and cystic fibrosis-related diabetes: a Mendelian randomization study.

Soave D, Miller MR, Keenan K, Li W, Gong J, Ip W, Accurso F, Sun L, Rommens JM, Sontag M, Durie PR, Strug LJ.

Diabetes. 2014 Jun;63(6):2114-9. doi: 10.2337/db13-1464. Epub 2014 Feb 18.

24.

Emphysematous cholecystitis in a non-diabetic patient.

Le Brun JC, Katz RM, Nasr AA, Rommens JJ.

JBR-BTR. 2013 Sep-Oct;96(5):316. No abstract available.

PMID:
24479299
25.

Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities.

Li W, Soave D, Miller MR, Keenan K, Lin F, Gong J, Chiang T, Stephenson AL, Durie P, Rommens J, Sun L, Strug LJ.

Hum Genet. 2014 Feb;133(2):151-61. doi: 10.1007/s00439-013-1363-7. Epub 2013 Sep 22.

PMID:
24057835
26.

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

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, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.

Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.

27.

Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry.

Linton L, Martin LJ, Li Q, Huszti E, Minkin S, John EM, Rommens J, Paterson AD, Boyd NF.

Breast Cancer Res. 2013 May 25;15(3):R43. doi: 10.1186/bcr3430.

28.

Genetic modifiers of cystic fibrosis-related diabetes.

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.

Diabetes. 2013 Oct;62(10):3627-35. doi: 10.2337/db13-0510. Epub 2013 May 13.

29.

Identification of a novel percent mammographic density locus at 12q24.

Stevens KN, Lindstrom S, Scott CG, Thompson D, Sellers TA, Wang X, Wang A, Atkinson E, Rider DN, Eckel-Passow JE, Varghese JS, Audley T, Brown J, Leyland J, Luben RN, Warren RM, Loos RJ, Wareham NJ, Li J, Hall P, Liu J, Eriksson L, Czene K, Olson JE, Pankratz VS, Fredericksen Z, Diasio RB, Lee AM, Heit JA, DeAndrade M, Goode EL, Vierkant RA, Cunningham JM, Armasu SM, Weinshilboum R, Fridley BL, Batzler A, Ingle JN, Boyd NF, Paterson AD, Rommens J, Martin LJ, Hopper JL, Southey MC, Stone J, Apicella C, Kraft P, Hankinson SE, Hazra A, Hunter DJ, Easton DF, Couch FJ, Tamimi RM, Vachon CM.

Hum Mol Genet. 2012 Jul 15;21(14):3299-305. doi: 10.1093/hmg/dds158. Epub 2012 Apr 24.

30.

Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.

Tourlakis ME, Zhong J, Gandhi R, Zhang S, Chen L, Durie PR, Rommens JM.

Gastroenterology. 2012 Aug;143(2):481-92. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14.

PMID:
22510201
31.

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.

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, Naughton KM, O'Neal WK, Pace RG, Stonebraker JR, Wood SD, Wright FA, Zielenski J, Clement A, Drumm ML, Boëlle PY, Cutting GR, Knowles MR, Durie PR, Strug LJ.

Nat Genet. 2012 May;44(5):562-9. doi: 10.1038/ng.2221.

32.

Mammographic breast density and breast cancer: evidence of a shared genetic basis.

Varghese JS, Thompson DJ, Michailidou K, Lindström S, Turnbull C, Brown J, Leyland J, Warren RM, Luben RN, Loos RJ, Wareham NJ, Rommens J, Paterson AD, Martin LJ, Vachon CM, Scott CG, Atkinson EJ, Couch FJ, Apicella C, Southey MC, Stone J, Li J, Eriksson L, Czene K, Boyd NF, Hall P, Hopper JL, Tamimi RM; MODE Consortium, Rahman N, Easton DF.

Cancer Res. 2012 Mar 15;72(6):1478-84. doi: 10.1158/0008-5472.CAN-11-3295. Epub 2012 Jan 19.

33.

Breast cancer in a case of Shwachman Diamond syndrome.

Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM.

Pediatr Blood Cancer. 2012 Nov;59(5):945-6. doi: 10.1002/pbc.24052. Epub 2011 Dec 27.

PMID:
22213587
34.

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM.

Ann N Y Acad Sci. 2011 Dec;1242:40-55. doi: 10.1111/j.1749-6632.2011.06349.x.

PMID:
22191555
35.

A genome-wide linkage study of mammographic density, a risk factor for breast cancer.

Greenwood CM, Paterson AD, Linton L, Andrulis IL, Apicella C, Dimitromanolakis A, Kriukov V, Martin LJ, Salleh A, Samiltchuk E, Parekh RV, Southey MC, John EM, Hopper JL, Boyd NF, Rommens JM.

Breast Cancer Res. 2011;13(6):R132. doi: 10.1186/bcr3078. Epub 2011 Dec 21.

36.

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

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 Jr, Lange EM, Lee S, Li W, Luo J, Mayhew GM, Naughton KM, Pace RG, Paré P, Rommens JM, Sandford A, Stonebraker JR, Sun W, Taylor C, Vanscoy LL, Zou F, Blangero J, Zielenski J, O'Neal WK, Drumm ML, Durie PR, Knowles MR, Cutting GR.

Nat Genet. 2011 Jun;43(6):539-46. doi: 10.1038/ng.838. Epub 2011 May 22.

37.

Common variants in ZNF365 are associated with both mammographic density and breast cancer risk.

Lindström S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, Brown J, Leyland J, Audley T, Wareham NJ, Loos RJ, Paterson AD, Rommens J, Waggott D, Martin LJ, Scott CG, Pankratz VS, Hankinson SE, Hazra A, Hunter DJ, Hopper JL, Southey MC, Chanock SJ, Silva Idos S, Liu J, Eriksson L, Couch FJ, Stone J, Apicella C, Czene K, Kraft P, Hall P, Easton DF, Boyd NF, Tamimi RM.

Nat Genet. 2011 Mar;43(3):185-7. doi: 10.1038/ng.760. Epub 2011 Jan 30.

38.

Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis.

Leung R, Cuddy K, Wang Y, Rommens J, Glogauer M.

Blood. 2011 Feb 10;117(6):2044-53. doi: 10.1182/blood-2010-05-282574. Epub 2010 Nov 17.

39.

Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome.

Stormon MO, Ip WF, Ellis L, Schibli S, Rommens JM, Durie PR.

J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):8-13. doi: 10.1097/MPG.0b013e3181d67e78.

PMID:
20512054
40.

Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia.

Raaijmakers MH, Mukherjee S, Guo S, Zhang S, Kobayashi T, Schoonmaker JA, Ebert BL, Al-Shahrour F, Hasserjian RP, Scadden EO, Aung Z, Matza M, Merkenschlager M, Lin C, Rommens JM, Scadden DT.

Nature. 2010 Apr 8;464(7290):852-7. doi: 10.1038/nature08851. Epub 2010 Mar 21.

41.

Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene.

Paterson AD, Rommens JM, Bharaj B, Blavignac J, Wong I, Diamandis M, Waye JS, Rivard GE, Hayward CP.

Blood. 2010 Feb 11;115(6):1264-6. doi: 10.1182/blood-2009-07-233965. Epub 2009 Dec 9.

42.

The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function.

Kerr EN, Ellis L, Dupuis A, Rommens JM, Durie PR.

J Pediatr. 2010 Mar;156(3):433-8. doi: 10.1016/j.jpeds.2009.09.026. Epub 2009 Nov 10.

PMID:
19906387
43.

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.

Ball HL, Zhang B, Riches JJ, Gandhi R, Li J, Rommens JM, Myers JS.

Hum Mol Genet. 2009 Oct 1;18(19):3684-95. doi: 10.1093/hmg/ddp316. Epub 2009 Jul 14.

44.

Mammographic density: a heritable risk factor for breast cancer.

Boyd NF, Martin LJ, Rommens JM, Paterson AD, Minkin S, Yaffe MJ, Stone J, Hopper JL.

Methods Mol Biol. 2009;472:343-60. doi: 10.1007/978-1-60327-492-0_15. Review.

PMID:
19107441
45.

Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.

Diamandis M, Paterson AD, Rommens JM, Veljkovic DK, Blavignac J, Bulman DE, Waye JS, Derome F, Rivard GE, Hayward CP.

Blood. 2009 Feb 12;113(7):1543-6. doi: 10.1182/blood-2008-08-175216. Epub 2008 Nov 6.

46.

A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation.

Aznarez I, Barash Y, Shai O, He D, Zielenski J, Tsui LC, Parkinson J, Frey BJ, Rommens JM, Blencowe BJ.

Genome Res. 2008 Aug;18(8):1247-58. doi: 10.1101/gr.073155.107. Epub 2008 May 2.

47.

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.

Toiviainen-Salo S, Mäyränpää MK, Durie PR, Richards N, Grynpas M, Ellis L, Ikegawa S, Cole WG, Rommens J, Marttinen E, Savilahti E, Mäkitie O.

Bone. 2007 Dec;41(6):965-72. Epub 2007 Sep 5.

PMID:
17920346
48.

Kirschner wire migration causing spinal cord injury one year after internal fixation of a clavicle fracture.

Fransen P, Bourgeois S, Rommens J.

Acta Orthop Belg. 2007 Jun;73(3):390-2.

PMID:
17715732
49.
50.

Spontaneous repositioning of a chest port catheter by contrast medium injection.

Laureys M, Rommens J.

Cardiovasc Intervent Radiol. 2007 May-Jun;30(3):543-4. No abstract available.

PMID:
17278039

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