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Johanna Rommens

TitleSenior Scientist Emeritus
InstitutionThe Hospital for Sick Children
DepartmentGenetics and Genome Biology
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Aksit MA, Pace RG, Vecchio-Pagán 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, Blackman SM. Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits. J Clin Endocrinol Metab. 2020 May 01; 105(5). PMID: 31697830.
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    2. 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. Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis. Am J Respir Crit Care Med. 2019 05 01; 199(9):1116-1126. PMID: 30888834.
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    3. 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. Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci. PLoS Genet. 2019 02; 15(2):e1008007. PMID: 30807572.
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    4. Kerschner JL, Ghosh S, Paranjapye A, Cosme WR, Audrézet MP, Nakakuki M, Ishiguro H, Férec C, Rommens J, Harris A. Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients. J Mol Diagn. 2019 01; 21(1):70-80. PMID: 30296588.
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    5. Ahmadi S, Xia S, Wu YS, Di Paola M, Kissoon R, Luk C, Lin F, Du K, Rommens J, Bear CE. SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion. Elife. 2018 07 13; 7. PMID: 30004386.
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    6. 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. Improving imputation in disease-relevant regions: lessons from cystic fibrosis. NPJ Genom Med. 2018; 3:8. PMID: 29581887.
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    7. 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. Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia. NPJ Genom Med. 2017 Apr 14; 2:12. PMID: 28649446.
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    8. 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. Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk. Int J Epidemiol. 2017 04 01; 46(2):652-661. PMID: 28338721.
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    9. 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. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. 2017 03 16; 129(11):1557-1562. PMID: 28062395.
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    10. 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. SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention. PLoS Genet. 2017 01; 13(1):e1006552. PMID: 28056084.
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    11. 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. Am J Respir Crit Care Med. 2016 12 01; 194(11):1375-1382. PMID: 27258095.
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    12. 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. Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics. Hum Mol Genet. 2016 10 15; 25(20):4590-4600. PMID: 28171547.
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    13. Arking D, Rommens J. Editorial overview: Molecular and genetic bases of disease: Enter the post-GWAS era. Curr Opin Genet Dev. 2015 Aug; 33:77-9. PMID: 26496009.
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    14. Sosnay PR, Castellani C, Penland CM, Rommens JM, Lewis M, Raraigh KS, Corey M, Cutting GR. Bias in CFTR screening panels. Genet Med. 2016 Feb; 18(2):209. PMID: 26513347.
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    15. 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. Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. Nat Commun. 2015 Sep 29; 6:8382. PMID: 26417704.
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    16. Zambetti NA, Bindels EM, Van Strien PM, Valkhof MG, Adisty MN, Hoogenboezem RM, Sanders MA, Rommens JM, Touw IP, Raaijmakers MH. Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes. Haematologica. 2015 Oct; 100(10):1285-93. PMID: 26185170.
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    17. Soave D, Corvol H, Panjwani N, Gong J, Li W, Boëlle PY, Durie PR, Paterson AD, Rommens JM, Strug LJ, Sun L. A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways. Am J Hum Genet. 2015 Jul 02; 97(1):125-38. PMID: 26140448.
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    18. Dupuis A, Keenan K, Ooi CY, Dorfman R, Sontag MK, Naehrlich L, Castellani C, Strug LJ, Rommens JM, Gonska T. Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Genet Med. 2016 Apr; 18(4):333-40. PMID: 26087176.
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    19. Tourlakis ME, Zhang S, Ball HL, Gandhi R, Liu H, Zhong J, Yuan JS, Guidos CJ, Durie PR, Rommens JM. In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency. PLoS Genet. 2015 Jun; 11(6):e1005288. PMID: 26057580.
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    20. 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. Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis. J Pediatr. 2015 May; 166(5):1152-1157.e6. PMID: 25771386.
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    21. 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. Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes. Am J Hum Genet. 2015 Feb 05; 96(2):318-28. PMID: 25640674.
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    22. Soave D, Miller MR, Keenan K, Li W, Gong J, Ip W, Accurso F, Sun L, Rommens JM, Sontag M, Durie PR, Strug LJ. Evidence for a causal relationship between early exocrine pancreatic disease and cystic fibrosis-related diabetes: a Mendelian randomization study. Diabetes. 2014 Jun; 63(6):2114-9. PMID: 24550193.
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    23. Li W, Soave D, Miller MR, Keenan K, Lin F, Gong J, Chiang T, Stephenson AL, Durie P, Rommens J, Sun L, Strug LJ. Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities. Hum Genet. 2014 Feb; 133(2):151-61. PMID: 24057835.
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    24. 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. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 Oct; 45(10):1160-7. PMID: 23974870.
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    25. Linton L, Martin LJ, Li Q, Huszti E, Minkin S, John EM, Rommens J, Paterson AD, Boyd NF. Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry. Breast Cancer Res. 2013 May 25; 15(3):R43. PMID: 23705888.
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    26. 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. 2013 Oct; 62(10):3627-35. PMID: 23670970.
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    27. 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. Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nat Genet. 2012 May; 44(5):562-9. PMID: 22466613.
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    28. 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. Identification of a novel percent mammographic density locus at 12q24. Hum Mol Genet. 2012 Jul 15; 21(14):3299-305. PMID: 22532574.
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    29. Tourlakis ME, Zhong J, Gandhi R, Zhang S, Chen L, Durie PR, Rommens JM. Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology. 2012 Aug; 143(2):481-92. PMID: 22510201.
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    30. 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, Rahman N, Easton DF. Mammographic breast density and breast cancer: evidence of a shared genetic basis. Cancer Res. 2012 Mar 15; 72(6):1478-84. PMID: 22266113.
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    31. Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM. Breast cancer in a case of Shwachman Diamond syndrome. Pediatr Blood Cancer. 2012 Nov; 59(5):945-6. PMID: 22213587.
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    32. 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. A genome-wide linkage study of mammographic density, a risk factor for breast cancer. Breast Cancer Res. 2011; 13(6):R132. PMID: 22188651.
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    33. 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. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011 Dec; 1242:40-55. PMID: 22191555.
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    34. 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, 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. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet. 2011 Jun; 43(6):539-46. PMID: 21602797.
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    35. 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. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet. 2011 Mar; 43(3):185-7. PMID: 21278746.
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    36. Leung R, Cuddy K, Wang Y, Rommens J, Glogauer M. Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis. Blood. 2011 Feb 10; 117(6):2044-53. PMID: 21084708.
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    37. Stormon MO, Ip WF, Ellis L, Schibli S, Rommens JM, Durie PR. Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome. J Pediatr Gastroenterol Nutr. 2010 Jul; 51(1):8-13. PMID: 20512054.
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    38. 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. Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia. Nature. 2010 Apr 08; 464(7290):852-7. PMID: 20305640.
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    39. Paterson AD, Rommens JM, Bharaj B, Blavignac J, Wong I, Diamandis M, Waye JS, Rivard GE, Hayward CP. Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood. 2010 Feb 11; 115(6):1264-6. PMID: 20007542.
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    40. Kerr EN, Ellis L, Dupuis A, Rommens JM, Durie PR. The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function. J Pediatr. 2010 Mar; 156(3):433-8. PMID: 19906387.
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    41. Ball HL, Zhang B, Riches JJ, Gandhi R, Li J, Rommens JM, Myers JS. Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses. Hum Mol Genet. 2009 Oct 01; 18(19):3684-95. PMID: 19602484.
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    42. Boyd NF, Martin LJ, Rommens JM, Paterson AD, Minkin S, Yaffe MJ, Stone J, Hopper JL. Mammographic density: a heritable risk factor for breast cancer. Methods Mol Biol. 2009; 472:343-60. PMID: 19107441.
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    43. Diamandis M, Paterson AD, Rommens JM, Veljkovic DK, Blavignac J, Bulman DE, Waye JS, Derome F, Rivard GE, Hayward CP. Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. Blood. 2009 Feb 12; 113(7):1543-6. PMID: 18988861.
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    44. Aznarez I, Barash Y, Shai O, He D, Zielenski J, Tsui LC, Parkinson J, Frey BJ, Rommens JM, Blencowe BJ. 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. Genome Res. 2008 Aug; 18(8):1247-58. PMID: 18456862.
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    45. 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. Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. Bone. 2007 Dec; 41(6):965-72. PMID: 17920346.
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    46. Aznarez I, Zielenski J, Rommens JM, Blencowe BJ, Tsui LC. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. J Med Genet. 2007 May; 44(5):341-6. PMID: 17475917.
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    47. Zhang S, Shi M, Hui CC, Rommens JM. Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. Mol Cell Biol. 2006 Sep; 26(17):6656-63. PMID: 16914746.
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    48. Oh RS, Bai X, Rommens JM. Human homologs of Ubc6p ubiquitin-conjugating enzyme and phosphorylation of HsUbc6e in response to endoplasmic reticulum stress. J Biol Chem. 2006 Jul 28; 281(30):21480-90. PMID: 16720581.
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    49. Boocock GR, Marit MR, Rommens JM. Phylogeny, sequence conservation, and functional complementation of the SBDS protein family. Genomics. 2006 Jun; 87(6):758-71. PMID: 16529906.
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    50. Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2006 Jan; 38(1):93-100. PMID: 16311595.
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    51. Boyd NF, Rommens JM, Vogt K, Lee V, Hopper JL, Yaffe MJ, Paterson AD. Mammographic breast density as an intermediate phenotype for breast cancer. Lancet Oncol. 2005 Oct; 6(10):798-808. PMID: 16198986.
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    52. Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ. Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. J Biol Chem. 2005 May 13; 280(19):19221-9. PMID: 15701631.
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    53. Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, Yee AA, Sánchez-Pulido L, Andrade MA, Bochkarev A, Watson JD, Kennedy MA, Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem. 2005 May 13; 280(19):19213-20. PMID: 15701634.
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    54. Mäkitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet. 2004 Feb; 65(2):101-12. PMID: 14984468.
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    55. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Human chromosome 7: DNA sequence and biology. Science. 2003 May 02; 300(5620):767-72. PMID: 12690205.
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    56. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003 Jan; 33(1):97-101. PMID: 12496757.
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    57. Ip WF, Dupuis A, Ellis L, Beharry S, Morrison J, Stormon MO, Corey M, Rommens JM, Durie PR. Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. J Pediatr. 2002 Aug; 141(2):259-65. PMID: 12183724.
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    58. Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs S, Durie P, Elghetany MT, Grand R, Hubbard V, Rommens J, Rossi T. Shwachman-Diamond syndrome: report from an international conference. J Pediatr. 2002 Aug; 141(2):266-70. PMID: 12183725.
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    59. Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM. Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. Eur J Hum Genet. 2002 Apr; 10(4):250-8. PMID: 12032733.
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    60. Mohammad-Panah R, Ackerley C, Rommens J, Choudhury M, Wang Y, Bear CE. The chloride channel ClC-4 co-localizes with cystic fibrosis transmembrane conductance regulator and may mediate chloride flux across the apical membrane of intestinal epithelia. J Biol Chem. 2002 Jan 04; 277(1):566-74. PMID: 11675385.
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    61. Gyömörey K, Garami E, Galley K, Rommens JM, Bear CE. Non-CFTR chloride channels likely contribute to secretion in the murine small intestine. Pflugers Arch. 2001; 443 Suppl 1:S103-6. PMID: 11845313.
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    62. Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet. 2001 Apr; 68(4):1048-54. PMID: 11254457.
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    63. Tavtigian SV, Simard J, Teng DH, Abtin V, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dayananth P, Desrochers M, Dumont M, Farnham JM, Frank D, Frye C, Ghaffari S, Gupte JS, Hu R, Iliev D, Janecki T, Kort EN, Laity KE, Leavitt A, Leblanc G, McArthur-Morrison J, Pederson A, Penn B, Peterson KT, Reid JE, Richards S, Schroeder M, Smith R, Snyder SC, Swedlund B, Swensen J, Thomas A, Tranchant M, Woodland AM, Labrie F, Skolnick MH, Neuhausen S, Rommens J, Cannon-Albright LA. A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet. 2001 Feb; 27(2):172-80. PMID: 11175785.
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    64. Mohammad-Panah R, Gyomorey K, Rommens J, Choudhury M, Li C, Wang Y, Bear CE. ClC-2 contributes to native chloride secretion by a human intestinal cell line, Caco-2. J Biol Chem. 2001 Mar 16; 276(11):8306-13. PMID: 11096079.
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    65. Underhill DA, Vogan KJ, Kibar Z, Morrison J, Rommens J, Gros P. Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation. Mamm Genome. 2000 Aug; 11(8):633-8. PMID: 10920231.
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    66. Lechardeur D, Drzymala L, Sharma M, Zylka D, Kinach R, Pacia J, Hicks C, Usmani N, Rommens JM, Lukacs GL. Determinants of the nuclear localization of the heterodimeric DNA fragmentation factor (ICAD/CAD). J Cell Biol. 2000 Jul 24; 150(2):321-34. PMID: 10908575.
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    67. Van Oene M, Lukacs GL, Rommens JM. Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 2000 Jun 30; 275(26):19577-84. PMID: 10764788.
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    68. Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, Durie PR, Rommens JM. Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance. Am J Hum Genet. 2000 Apr; 66(4):1413-6. PMID: 10739765.
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    69. Goobie S, Morrison J, Ginzberg H, Ellis L, Corey M, Masuno M, Imaizumi K, Kuroki Y, Fujiwara TM, Morgan K, Durie PR, Rommens JM. Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. Am J Med Genet. 1999 Jul 16; 85(2):171-4. PMID: 10406671.
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    70. Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr. 1999 Jul; 135(1):81-8. PMID: 10393609.
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    71. Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999 Jun; 22(2):196-8. PMID: 10369266.
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    72. Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics. 1999 May 01; 57(3):342-51. PMID: 10329000.
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    73. Levesque G, Yu G, Nishimura M, Zhang DM, Levesque L, Yu H, Xu D, Liang Y, Rogaeva E, Ikeda M, Duthie M, Murgolo N, Wang L, VanderVere P, Bayne ML, Strader CD, Rommens JM, Fraser PE, St George-Hyslop P. Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin. J Neurochem. 1999 Mar; 72(3):999-1008. PMID: 10037471.
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    74. Crackower MA, Sinasac DS, Xia J, Motoyama J, Prochazka M, Rommens JM, Scherer SW, Tsui LC. Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. Genomics. 1999 Feb 01; 55(3):257-67. PMID: 10049579.
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    75. Totaro A, Grifa A, Carella M, Rommens JM, Valentino MA, Roetto A, Zelante L, Gasparini P. Cloning of a new gene (FB19) within HLA class I region. Biochem Biophys Res Commun. 1998 Sep 29; 250(3):555-7. PMID: 9784381.
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    76. Grifa A, Totaro A, Rommens JM, Carella M, Roetto A, Borgato L, Zelante L, Gasparini P. GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene. Biochem Biophys Res Commun. 1998 Sep 18; 250(2):240-5. PMID: 9753614.
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    77. Collins C, Rommens JM, Kowbel D, Godfrey T, Tanner M, Hwang SI, Polikoff D, Nonet G, Cochran J, Myambo K, Jay KE, Froula J, Cloutier T, Kuo WL, Yaswen P, Dairkee S, Giovanola J, Hutchinson GB, Isola J, Kallioniemi OP, Palazzolo M, Martin C, Ericsson C, Pinkel D, Albertson D, Li WB, Gray JW. Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. Proc Natl Acad Sci U S A. 1998 Jul 21; 95(15):8703-8. PMID: 9671742.
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    78. Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci U S A. 1998 Mar 17; 95(6):3059-64. PMID: 9501215.
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    79. Totaro A, Roetto A, Rommens JM, Grifa A, Carella M, d'Agruma L, Valentino MA, D'Ambrosio L, Cicilano M, Camaschella C, Franco B, Gasparini P. Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22). Eur J Hum Genet. 1998 Mar-Apr; 6(2):105-13. PMID: 9781053.
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    80. Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codère F, Fardeau M, Rouleau GA, Korcyn AD. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998 Feb; 18(2):164-7. PMID: 9462747.
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    81. Rozmahel R, Heng HH, Duncan AM, Shi XM, Rommens JM, Tsui LC. Amplification of CFTR exon 9 sequences to multiple locations in the human genome. Genomics. 1997 Nov 01; 45(3):554-61. PMID: 9367680.
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    82. Lafrenière RG, Kibar Z, Rochefort DL, Han FY, Fon EA, Dubé MP, Kang X, Baird S, Korneluk RG, Rommens JM, Rouleau GA. Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3. Gene. 1997 Oct 01; 198(1-2):313-21. PMID: 9370297.
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    83. Linsdell P, Tabcharani JA, Rommens JM, Hou YX, Chang XB, Tsui LC, Riordan JR, Hanrahan JW. Permeability of wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels to polyatomic anions. J Gen Physiol. 1997 Oct; 110(4):355-64. PMID: 9379168.
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    84. Roux AF, Rommens JM, Read L, Duncan AM, Cox DW. Physical and transcription map in the region 14q24.3: identification of six novel transcripts. Genomics. 1997 Jul 15; 43(2):130-40. PMID: 9244429.
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    85. Krebs I, Weis I, Hudler M, Rommens JM, Roth H, Scherer SW, Tsui LC, Füchtbauer EM, Grzeschik KH, Tsuji K, Kunz J. Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum Mol Genet. 1997 Jul; 6(7):1079-86. PMID: 9215678.
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    86. Merante F, Duncan AM, Mitchell G, Duff C, Rommens J, Robinson BH. Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene. Genome. 1997 Jun; 40(3):318-24. PMID: 9202412.
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    87. Piemontese MR, Memeo E, Carella M, Amati P, Chomel JC, Bonneau D, Pilia G, Cao A, Drabkin H, Gemmill R, Rommens J, Zelante L, Gasparini P, Bisceglia L. A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. Eur J Hum Genet. 1997 May-Jun; 5(3):171-4. PMID: 9272742.
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    88. Tambini CE, George AM, Rommens JM, Tsui LC, Scherer SW, Thacker J. The XRCC2 DNA repair gene: identification of a positional candidate. Genomics. 1997 Apr 01; 41(1):84-92. PMID: 9126486.
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    89. Rogaev EI, Sherrington R, Wu C, Levesque G, Liang Y, Rogaeva EA, Ikeda M, Holman K, Lin C, Lukiw WJ, de Jong PJ, Fraser PE, Rommens JM, St George-Hyslop P. Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics. 1997 Mar 15; 40(3):415-24. PMID: 9073509.
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    90. Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Cossio OH, Sørensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA. Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet. 1997 Mar; 15(3):298-302. PMID: 9054946.
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    91. Citron M, Westaway D, Xia W, Carlson G, Diehl T, Levesque G, Johnson-Wood K, Lee M, Seubert P, Davis A, Kholodenko D, Motter R, Sherrington R, Perry B, Yao H, Strome R, Lieberburg I, Rommens J, Kim S, Schenk D, Fraser P, St George Hyslop P, Selkoe DJ. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nat Med. 1997 Jan; 3(1):67-72. PMID: 8986743.
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    92. Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet. 1997 Jan; 15(1):74-7. PMID: 8988172.
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    93. Fam NP, Zhang LJ, Rommens JM, Beatty BG, Moran MF. Mapping of the Ras-GRF2 gene (GRF2) to mouse chromosome 13C3-D1 and human chromosome 5q13, near the Ras-GAP gene. Genomics. 1997 Jan 01; 39(1):118-20. PMID: 9027497.
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    94. Lafrenière RG, Rochefort DL, Kibar Z, Fon EA, Han F, Cochius J, Kang X, Baird S, Korneluk RG, Andermann E, Rommens JM, Rouleau GA. Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3. Genomics. 1996 Dec 15; 38(3):264-72. PMID: 8975701.
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    95. Li C, Ramjeesingh M, Wang W, Garami E, Hewryk M, Lee D, Rommens JM, Galley K, Bear CE. ATPase activity of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 1996 Nov 08; 271(45):28463-8. PMID: 8910473.
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    96. Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet. 1996 Nov; 14(3):353-6. PMID: 8896571.
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    97. Rowles J, Scherer SW, Xi T, Majer M, Nickle DC, Rommens JM, Popov KM, Harris RA, Riebow NL, Xia J, Tsui LC, Bogardus C, Prochazka M. Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human. J Biol Chem. 1996 Sep 13; 271(37):22376-82. PMID: 8798399.
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    98. Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics. 1996 Sep 01; 36(2):328-36. PMID: 8812460.
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    99. Couch FJ, Rommens JM, Neuhausen SL, Bélanger C, Dumont M, Abel K, Bell R, Berry S, Bogden R, Cannon-Albright L, Farid L, Frye C, Hattier T, Janecki T, Jiang P, Kehrer R, Leblanc JF, McArthur-Morrison J, Meney D, Miki Y, Peng Y, Samson C, Schroeder M, Snyder SC, Simard J, et al. Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. Genomics. 1996 Aug 15; 36(1):86-99. PMID: 8812419.
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    100. Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA, Levesque G, Rogaev EI, Lin C, Liang Y, Ikeda M, Mar L, Brice A, Agid Y, Percy ME, Clerget-Darpoux F, Piacentini S, Marcon G, Nacmias B, Amaducci L, Frebourg T, Lannfelt L, Rommens JM, St George-Hyslop PH. Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. Hum Mol Genet. 1996 Jul; 5(7):985-8. PMID: 8817335.
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    101. Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, Bogden B, Chen Q, Neuhausen S, Shattuck-Eidens D, Godwin AK, Daly M, Radford DM, Sedlacek S, Rommens J, Simard J, Garber J, Merajver S, Weber BL. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet. 1996 May; 13(1):123-5. PMID: 8673091.
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    102. Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet. 1996 May; 5(5):571-9. PMID: 8733122.
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    103. Lei DC, Kunzelmann K, Koslowsky T, Yezzi MJ, Escobar LC, Xu Z, Ellison AR, Rommens JM, Tykocinski M, Gruenert DC. Episomal expression of wild-type CFTR corrects cAMP-dependent chloride transport in respiratory epithelial cells. Gene Ther. 1996 May; 3(5):427-36. PMID: 9156804.
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    104. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet. 1996 Mar; 12(3):333-7. PMID: 8589730.
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    105. Totaro A, Rommens JM, Grifa A, Lunardi C, Carella M, Huizenga JJ, Roetto A, Camaschella C, De Sandre G, Gasparini P. Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region. Genomics. 1996 Feb 01; 31(3):319-26. PMID: 8838313.
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    106. St George-Hyslop PH, Levesque G, Levesque L, Rommens J, Westaway D, Fraser PE. Two homologous genes causing early-onset familial Alzheimer's disease. Cold Spring Harb Symp Quant Biol. 1996; 61:559-64. PMID: 9246482.
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    107. Rommens JM, Durocher F, McArthur J, Tonin P, LeBlanc JF, Allen T, Samson C, Ferri L, Narod S, Morgan K, et al. Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21. Genomics. 1995 Aug 10; 28(3):530-42. PMID: 7490091.
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    108. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 1995 Jun 29; 375(6534):754-60. PMID: 7596406.
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    109. Lin B, Nasir J, McDonald H, Graham R, Rommens JM, Goldberg YP, Hayden MR. Genomic organization of the human alpha-adducin gene and its alternately spliced isoforms. Genomics. 1995 Jan 01; 25(1):93-9. PMID: 7774961.
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    110. van Deutekom JC, Hofker MH, Romberg S, van Geel M, Rommens J, Wright TJ, Hewitt JE, Padberg GW, Wijmenga C, Frants RR. Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve Suppl. 1995; (2):S19-26. PMID: 23573582.
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    111. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, Samson C, Leblanc JF, Bélanger C, Dion F, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet. 1994 Dec; 8(4):392-8. PMID: 7894492.
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    112. Becq F, Jensen TJ, Chang XB, Savoia A, Rommens JM, Tsui LC, Buchwald M, Riordan JR, Hanrahan JW. Phosphatase inhibitors activate normal and defective CFTR chloride channels. Proc Natl Acad Sci U S A. 1994 Sep 13; 91(19):9160-4. PMID: 7522329.
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    113. Roux AF, Rommens J, McDowell C, Anson-Cartwright L, Bell S, Schappert K, Fishman GA, Musarella M. Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex. Hum Mol Genet. 1994 Feb; 3(2):257-63. PMID: 8004092.
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    114. Lin B, Nasir J, MacDonald H, Hutchinson G, Graham RK, Rommens JM, Hayden MR. Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected]. Hum Mol Genet. 1994 Jan; 3(1):85-92. PMID: 8162057.
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    115. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. 1993 Dec; 5(4):327-37. PMID: 8298639.
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    116. Tabcharani JA, Rommens JM, Hou YX, Chang XB, Tsui LC, Riordan JR, Hanrahan JW. Multi-ion pore behaviour in the CFTR chloride channel. Nature. 1993 Nov 04; 366(6450):79-82. PMID: 7694154.
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    117. Lin B, Rommens JM, Graham RK, Kalchman M, MacDonald H, Nasir J, Delaney A, Goldberg YP, Hayden MR. Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression. Hum Mol Genet. 1993 Oct; 2(10):1541-5. PMID: 7903579.
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    118. Hutchinson GB, Andrew SE, McDonald H, Goldberg YP, Graham R, Rommens JM, Hayden MR. An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily. Nucleic Acids Res. 1993 Jul 25; 21(15):3379-83. PMID: 8393987.
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    119. Rommens JM, Lin B, Hutchinson GB, Andrew SE, Goldberg YP, Glaves ML, Graham R, Lai V, McArthur J, Nasir J, et al. A transcription map of the region containing the Huntington disease gene. Hum Mol Genet. 1993 Jul; 2(7):901-7. PMID: 7689900.
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    120. Zielenski J, Bozon D, Markiewicz D, Aubin G, Simard F, Rommens JM, Tsui LC. Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations. Hum Mol Genet. 1993 Jun; 2(6):683-7. PMID: 7689008.
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    121. Scherer SW, Rommens JM, Soder S, Wong E, Plavsic N, Tompkins BJ, Beattie A, Kim J, Tsui LC. Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region. Hum Mol Genet. 1993 Jun; 2(6):751-60. PMID: 8353494.
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    122. Roux AF, Yuan CC, Rommens JM, Musarella MA. Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110). Hum Mol Genet. 1993 Jun; 2(6):821. PMID: 8353505.
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    123. Li C, Ramjeesingh M, Reyes E, Jensen T, Chang X, Rommens JM, Bear CE. The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR. Nat Genet. 1993 Apr; 3(4):311-6. PMID: 7526932.
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    124. Goldberg YP, Rommens JM, Andrew SE, Hutchinson GB, Lin B, Theilmann J, Graham R, Glaves ML, Starr E, McDonald H, et al. Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease. Nature. 1993 Mar 25; 362(6418):370-3. PMID: 8384324.
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    125. Dho S, Chou S, Chang XB, Rommens JM, Foskett JK. Right-angle light scattering to assay basal and regulated plasma membrane Cl- conductances. Am J Physiol. 1992 Aug; 263(2 Pt 1):C530-4. PMID: 1381149.
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    126. Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet. 1992 Jun; 50(6):1178-84. PMID: 1376016.
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    127. Zielenski J, Markiewicz D, Rininsland F, Rommens J, Tsui LC. A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Am J Hum Genet. 1991 Dec; 49(6):1256-62. PMID: 1720926.
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    128. Musarella MA, Anson-Cartwright CL, McDowell C, Burghes AH, Coulson SE, Worton RG, Rommens JM. Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Genomics. 1991 Oct; 11(2):263-72. PMID: 1769646.
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    129. Rommens JM, Dho S, Bear CE, Kartner N, Kennedy D, Riordan JR, Tsui LC, Foskett JK. cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator. Proc Natl Acad Sci U S A. 1991 Sep 01; 88(17):7500-4. PMID: 1715567.
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    130. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991 May; 10(1):214-28. PMID: 1710598.
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    131. Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui LC. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991 May; 10(1):229-35. PMID: 1710599.
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    132. Kartner N, Hanrahan JW, Jensen TJ, Naismith AL, Sun SZ, Ackerley CA, Reyes EF, Tsui LC, Rommens JM, Bear CE, et al. Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance. Cell. 1991 Feb 22; 64(4):681-91. PMID: 1705179.
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    133. Tsui LC, Rommens J, Kerem B, Rozmahel R, Zielenski J, Kennedy D, Markiewicz D, Plavsic N, Chou JL, Bozon D, et al. Molecular genetics of cystic fibrosis. Adv Exp Med Biol. 1991; 290:9-17; discussion 17-8. PMID: 1719772.
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    134. Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H, Tsui LC, Durie P. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). N Engl J Med. 1990 Nov 29; 323(22):1517-22. PMID: 2233932.
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    135. Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A. 1990 Nov; 87(21):8447-51. PMID: 2236053.
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    136. Drumm ML, Pope HA, Cliff WH, Rommens JM, Marvin SA, Tsui LC, Collins FS, Frizzell RA, Wilson JM. Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell. 1990 Sep 21; 62(6):1227-33. PMID: 1698126.
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    137. Burns J, Melmer G, Rommens JM, Riordan JR, Buchwald M. Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells. Hum Genet. 1990 Jul; 85(2):151-6. PMID: 1973401.
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    138. Melmer G, Sood R, Rommens J, Rego D, Tsui LC, Buchwald M. Isolation of clones on chromosome 7 that contain recognition sites for rare-cutting enzymes by oligonucleotide hybridization. Genomics. 1990 Jun; 7(2):173-81. PMID: 2161402.
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    139. Ivanov I, Rommens J, Sarafova A, Maximova V, Usheva A, Bardarov S, Papageorgiou A, Jay E. Chemical synthesis and characteristics of a hybrid phage T5-lac promoter. Microbiologica. 1990 Apr; 13(2):85-90. PMID: 2352484.
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    140. Rommens J, Kerem BS, Greer W, Chang P, Tsui LC, Ray P. Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet. 1990 Feb; 46(2):395-6. PMID: 2301405.
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    141. Rommens JM, Zengerling-Lentes S, Kerem B, Melmer G, Buchwald M, Tsui LC. Physical localization of two DNA markers closely linked to the cystic fibrosis locus by pulsed-field gel electrophoresis. Am J Hum Genet. 1989 Dec; 45(6):932-41. PMID: 2589321.
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    142. Rosenbloom CL, Kerem BS, Rommens JM, Tsui LC, Wainwright B, Williamson R, O'Brien WE, Beaudet AL. DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. Nucleic Acids Res. 1989 Sep 12; 17(17):7117. PMID: 2571129.
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    143. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 08; 245(4922):1073-80. PMID: 2570460.
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    144. Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 08; 245(4922):1059-65. PMID: 2772657.
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    145. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 08; 245(4922):1066-73. PMID: 2475911.
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    146. Kerem BS, Buchanan JA, Durie P, Corey ML, Levison H, Rommens JM, Buchwald M, Tsui LC. DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. Am J Hum Genet. 1989 Jun; 44(6):827-34. PMID: 2567116.
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    147. Logan C, Willard HF, Rommens JM, Joyner AL. Chromosomal localization of the human homeo box-containing genes, EN1 and EN2. Genomics. 1989 Feb; 4(2):206-9. PMID: 2567700.
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    148. Rommens JM, Zengerling S, Burns J, Melmer G, Kerem BS, Plavsic N, Zsiga M, Kennedy D, Markiewicz D, Rozmahel R, et al. Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene. Am J Hum Genet. 1988 Nov; 43(5):645-63. PMID: 2903665.
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    149. Tsui LC, Rommens JM, Burns J, Zengerling S, Riordan JR, Carlock LR, Grzeschik KH, Buchwald M. Progress towards cloning the cystic fibrosis gene. Philos Trans R Soc Lond B Biol Sci. 1988 Jun 15; 319(1194):263-73. PMID: 2900520.
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    150. Jay E, MacKnight D, Lutze-Wallace C, Harrison D, Wishart P, Liu WY, Asundi V, Pomeroy-Cloney L, Rommens J, Eglington L, et al. Chemical synthesis of a biologically active gene for human immune interferon-gamma. Prospect for site-specific mutagenesis and structure-function studies. J Biol Chem. 1984 May 25; 259(10):6311-7. PMID: 6327676.
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    151. Jay E, Rommens J, Pomeroy-Cloney L, MacKnight D, Lutze-Wallace C, Wishart P, Harrison D, Lui WY, Asundi V, Dawood M, et al. High-level expression of a chemically synthesized gene for human interferon-gamma using a prokaryotic expression vector. Proc Natl Acad Sci U S A. 1984 Apr; 81(8):2290-4. PMID: 6326118.
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    152. Rommens J, MacKnight D, Pomeroy-Cloney L, Jay E. Gene expression: chemical synthesis and molecular cloning of a bacteriophage T5 (T5P25) early promoter. Nucleic Acids Res. 1983 Sep 10; 11(17):5921-40. PMID: 6310520.
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    153. Jay E, Seth AK, Rommens J, Sood A, Jay G. Gene expression: chemical synthesis of E. coli ribosome binding sites and their use in directing the expression of mammalian proteins in bacteria. Nucleic Acids Res. 1982 Oct 25; 10(20):6319-29. PMID: 6294598.
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