Publications

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Displaying 1 through 31 of 31 publications.

Mansfield C, Boeri M, Coulter J, Baranowski E, Sparks S, An Haack K, Hamed A. The value of knowing: preferences for genetic testing to diagnose rare muscle diseases. Orphanet J Rare Dis. 2024 Apr 22;19(1):173. doi: 10.1186/s13023-024-03160-7

Yee KS, Alexanderian D, Martin S, Olayinka-Amao B, Whiteman DAH. Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment. Orphanet J Rare Dis. 2024 Apr 12;19(1):148. doi: 10.1186/s13023-024-03147-4

Yee KS, Lewis S, Evans E, Romano (DeMuro) C, Alexanderian D. Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II. Orphanet J Rare Dis. 2024 Mar 10;19(1):100. doi: 10.1186/s13023-024-03034-y

Yee KS, Chirila C, Davenport E, Mladsi D, Barnett C, Kronenberger WG. A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. Orphanet J Rare Dis. 2023 Nov 2;18(1):343. doi: 10.1186/s13023-023-02957-2

Hicks KA, Ghaswalla P, Carrico J, Anderson S, Novy P, Hogea C, Hayney MS. Estimating the cost of university-based outbreaks of serogroup B meningococcal disease with different pre-matriculation vaccination policies in the United States. J Am Coll Health. 2023 Jan 26. doi: 10.1080/07448481.2022.2163854

Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GA, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clement K, Haqq AM. Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. Orphanet J Rare Dis. 2023 Jan 16;18(1):12. doi: 10.1186/s13023-022-02602-4

Kuhnen P, Wabitsch M, von Schnurbein J, Chirila C, Mallya UG, Callahan P, Gnanasakthy A, Poitou C, Krabusch PM, Stewart M, Clement K. Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency. Orphanet J Rare Dis. 2022 Feb 5;17(1):38. doi: 10.1186/s13023-022-02186-z

Foreman PK, Margulis AV, Alexander K, Shediac R, Calingaert B, Harding A, Pladevall-Vila M, Landis S. Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis. Orphanet J Rare Dis. 2021 Jun 3;16(1):253. doi: 10.1186/s13023-021-01874-6

Dubner SJ, Teutsch C, Huisman MV, Diener H-C, Halperin J, Rothman KJ, Ma C-S, Chuquiure-Valenzuela E, Bergler-Klein J, Zint K, Franca LR, Lu S, Paquette M, Lip GYH. Characteristics and 2-year outcomes of dabigatran treatment in patients with heart failure and atrial fibrillation: GLORIA-AF. ESC Heart Fail. 2020 Oct;7(5):2679-89. doi: 10.1002/ehf2.12857

Noel E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagege A, Dupuis-Simeon F, Derrien Ansquer V, Germain DP, Lidove O. Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. Orphanet J Rare Dis. 2019 Dec 4;14(1):284. doi: 10.1186/s13023-019-1254-7

Paquin RS, Fischer R, Mansfield C, Mange B, Beaverson K, Ganot A, Martin AS, Morris C, Rensch C, Ricotti V, Russo LJ, Sadosky A, Smith EC, Peay H. Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients. Orphanet J Rare Dis. 2019 May 9;14(1):102. doi: 10.1186/s13023-019-1069-6

Harrington M, Whalley D, Twiss J, Rushton R, Martin S, Huynh L, Yang H. Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers. Orphanet J Rare Dis. 2019 Apr 29;14(1):89. doi: 10.1186/s13023-019-1060-2

Jackson JW, Garcia-Albeniz X. Studying the effects of nonindicated medications on cancer: etiologic versus action-focused analysis of epidemiologic data. Cancer Epidemiol Biomarkers Prev. 2018 May;27(5):520-4. doi: 10.1158/1055-9965.EPI-17-0862

McGuinness JE, Ueng W, Trivedi MS, Yi HS, David R, Vanegas A, Vargas J, Sandoval R, Kukafka R, Crew KD. Factors associated with false positive results on screening mammography in a population of predominantly Hispanic women. Cancer Epidemiol Biomarkers Prev. 2018 Apr;27(4):446-53. doi: 10.1158/1055-9965.EPI-17-0009

Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet J Rare Dis. 2017 Oct 16;12(1):164. doi: 10.1186/s13023-017-0716-z

Cronin-Fenton DP, Kjaersgaard A, Norgaard M, Pedersen IS, Thomassen M, Kaye JA, Gutierrez L, Telford C, Lewis J, Tyczynski JE, Sorensen HT. Clinical outcomes of female breast cancer according to BRCA mutation status. Cancer Epidemiol Biomarkers Prev. 2017 Aug;49:128-37. doi: 10.1016/j.canep.2017.05.016

Valeri L, Chen JT, Garcia-Albeniz X, Krieger N, VanderWeele TJ, Coull BA. The role of stage at diagnosis in colorectal cancer black-white survival disparities: a counterfactual causal inference approach. Cancer Epidemiol Biomarkers Prev. 2016 Jan;25(1):83-9. doi: 10.1158/1055-9965.EPI-15-0456

Sharp L, McDevitt J, Carsin AE, Brown C, Comber H. Smoking at diagnosis is an independent prognostic factor for cancer-specific survival in head and neck cancer: findings from a large, population-based study. Cancer Epidemiol Biomarkers Prev. 2014 Nov;23(11):2579-90. doi: 10.1158/1055-9965.EPI-14-0311

Lupo PJ, Chi CH, Danysh HE, Scheurer ME, Suzawa H, Woodard TL, Kovanci E, Okcu MF, Gibbons WE. Clinical and genetic predictors of impaired fertility in female survivors of childhood cancer. Presented at the American Society of Preventive Oncology 38th Annual Meeting; March 2014. Arlington, VA. [abstract] Cancer Epidemiol Biomarkers Prev. 2014 Mar; 23:565-6. doi: 10.1158/1055-9965.EPI-14-0072

Fortuny J, Sima C, Bayuga S, Wilcox H, Pulick K, Faulkner S, Zauber AG, Olson SH. Risk of endometrial cancer in relation to medical conditions and medication use. Cancer Epidemiol Biomarkers Prev. 2009 May;18(5):1448-156. doi: 10.1158/1055-9965.EPI-08-0936

Palmieri RT, Wilson MA, Iversen ES, Clyde MA, Calingaert B, Moorman PG, Poole C, Anderson AR, Anderson S, Anton-Culver H, Beesley J, Hogdall E, Brewster W, Carney ME, Chen X, Chenevix-Trench G, Chang-Claude J, Cunningham JM, DiCioccio RA, Doherty JA, Easton DF, Edlund CK, Gayther SA, Gentry-Maharaj A, Goode EL, Goodman MT, Kjaer SK, Hogdall CK, Hopkins MP, Jenison EL, Blaakaer J, Lurie G, McGuire V, Menon U, Moysich KB, Ness RB, Pearce CL, Pharoah PDP, Pike MC, Ramus SJ, Rossing MA, Song H, Terada KY, VanDenBerg D, Vierkant RA, Wang-Gohrke S, Webb PM, Whittemore AS, Wu AH, Ziogas A, Berchuck A, Schildkraut JM. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. Cancer Epidemiol Biomarkers Prev. 2008 Dec 1;17(12):3567-72.

Schildkraut JM, Moorman PG, Bland AE, Halabi S, Calingaert B, Whitaker R, Lee PS, Elkins-Williams T, Bentley RC, Marks JR, Berchuck A. Cyclin E overexpression in epithelial ovarian cancer characterizes an etiologic subgroup. Cancer Epidemiol Biomarkers Prev. 2008 Mar 1;17(3):585-93.

Schildkraut JM, Murphy SK, Palmieri RT, Iversen E, Moorman PG, Huang Z, Halabi S, Calingaert B, Gusberg A, Marks JR, Berchuck A. Trinucleotide repeat polymorphisms in the androgen receptor gene and risk of ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2007 Mar 1;16(3):473-80.

Fortuny J, Kogevinas M, Garcia-Closas M, Real FX, Tardon A, Garcia-Closas R, Serra C, Carrato A, Lloreta J, Rothman N, Villanueva C, Dosemeci M, Malats N, Silverman D. Use of analgesics and nonsteroidal anti-inflammatory drugs, genetic predisposition, and bladder cancer risk in Spain. Cancer Epidemiol Biomarkers Prev. 2006 Sep;15(9):1696-702. doi: 10.1158/1055-9965.EPI-06-0038

Fortuny J, de Sanjose S, Becker N, Maynadie M, Cocco PL, Staines A, Foretova L, Vornanen M, Brennan P, Nieters A, Alvaro T, Boffetta P. Statin use and risk of lymphoid neoplasms: results from the European Case-Control Study EPILYMPH. Cancer Epidemiol Biomarkers Prev. 2006 May;15(5):921-5. doi: 10.1158/1055-9965.EPI-05-0866 PMID 16702371

Berchuck A, Schildkraut JM, Wenham RM, Calingaert B, Ali S, Henriott A, Halabi S, Rodriguez GC, Gertig D, Purdie DM, Kelemen L, Spurdle AB, Marks J, Chenevix-Trench G. Progesterone receptor promoter +331A polymorphism is associated with a reduced risk of endometrioid and clear cell ovarian cancers. Cancer Epidemiol Biomarkers Prev. 2004 Dec 1;13(12):2141-7.

Moorman PG, Skinner CS, Evans JP, Newman B, Sorenson JR, Calingaert B, Susswein L, Crankshaw TS, Hoyo C, Schildkraut JM. Racial differences in enrolment in a cancer genetics registry. Cancer Epidemiol Biomarkers Prev. 2004 Aug 1;13(8):1349-54.

Lancaster JM, Wenham RM, Halabi S, Calingaert B, Marks JR, Moorman PG, Bentley RC, Berchuck A, Schildkraut JM. No relationship between ovarian cancer risk and progesterone receptor gene polymorphism in a population-based, case-control study in North Carolina. Cancer Epidemiol Biomarkers Prev. 2003 Mar 1;12(3):226-7.

Vinceti M, Rothman KJ, Bergomi M, Borciani N, Serra L, Vivoli G. Excess melanoma incidence in a cohort exposed to high levels of environmental selenium. Cancer Epidemiol Biomarkers Prev. 1998 Oct 1;7(10):853-6.

Vinceti M, Rothman KJ, Bergomi M, Borciani N, Serra L, Vivoli G. Reply to commentary on Excess melanoma incidence in a cohort exposed to high levels of environmental selenium. Cancer Epidemiol Biomarkers Prev. 1998 Oct;7:851-2.

Knox D, Gibson L, Zusman ME, Gallmeier C. Why college students end relationships. Coll Stud J. 1997 Jan 1;31(4):449-52.