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

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

Yland JJ, Crowe HM, Hatch EE, Willis SK, Wang TR, Mikkelsen EM, Savitz DA, Walkey AJ, Rothman KJ, Wise LA. A prospective study of preconception asthma and spontaneous abortion. Ann Epidemiol. 2022 May;69:27-33. doi: 10.1016/j.annepidem.2022.02.006

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

Hauser RA, Sethi K, Klepitskaya O, Odak S, Joshi N, Kebede N, Olson K, Liang GS, Yonan C, Serbin M. Treatment patterns in a real-world sample of patients with parkinson's disease and motor fluctuations. Poster presented at the 146th 2021 American Neurological Association (ANA) Virtual Meeting; October 17, 2021. [abstract] Ann Neurol. 2021 Oct; 90(S27):S153.

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

Hillmen P, Xie J, Yong A, Waweru C, Sorof TA, Goyal RK, Davis KL. Real-world treatment patterns, adverse events and clinical outcomes in patients with chronic lymphocytic leukaemia treated with ibrutinib in the UK. EJHaem. 2021 May;2(2):219-27. doi: 10.1002/jha2.174

Haviland MJ, Nillni YI, Fox MP, Savitz DA, Hatch EE, Rothman KJ, Hacker MR, Wang TR, Wise LA. Psychotropic medication use during pregnancy and gestational age at delivery. Ann Epidemiol. 2021 Jan;53:34-41. doi: 10.1016/j.annepidem.2020.08.010

Serbin M, Sutphin J, Leach C, Mansfield C, Yonan C, Klepitskaya O, Sheehan M, Donnelly A. Evaluating patients' preferences for Parkinson's disease treatments. Poster presented at the 146th 2021 American Neurological Association (ANA) Virtual Meeting; October 17, 2021. [abstract] Ann Neurol. 2021; 90(S27):S151-2.

Schrager NL, Wesselink AK, Wang TR, Hatch EE, Rothman KJ, Mikkelsen EM, Boynton-Jarrett RD, Wise LA. Association of income and education with fecundability in a North American preconception cohort. Ann Epidemiol. 2020 Oct;50:41-7. doi: 10.1016/j.annepidem.2020.07.004

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

Skajaa N, Horvath-Puho E, Adelborg K, Botker HE, Rothman KJ, Sorensen HT. Corrigendum to Lack of seasonality in occurrence of pericarditis, myocarditis, and endocarditis [Annals of Epidemiology 37 (2019) 77–80]. Ann Epidemiol. 2019 Dec;40:42. doi: 10.1016/j.annepidem.2019.07.005

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

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

Andrews EB, Gilsenan A, Midkiff K, Harris D. Challenges in studying very rare cancer outcomes and infrequent exposures: example of teriparatide and osteosarcoma - Editorial. Ann Epidemiol. 2016 Nov;26(11):751-3. doi: 10.1016/j.annepidem.2016.08.011

Pujol J, Fenoll R, Forns J, Harrison BJ, Martinez-Vilavella G, Macia D, Alvarez-Pedrerol M, Blanco-Hinojo L, Gonzalez-Ortiz S, Deus J, Sunyer J. Video gaming in school children: how much is enough? Ann Neurol. 2016 Sep;80(3):424-33. doi: 10.1002/ana.24745

Wesselink AK, Wise LA, Hatch EE, Rothman KJ, Mikkelsen EM, Stanford JB, McKinnon CJ, Mahalingaiah S. Menstrual cycle characteristics and fecundability in a North American preconception cohort. Ann Epidemiol. 2016 Jul;26(7):482-7.e1. doi: 10.1016/j.annepidem.2016.05.006

Hahn KA, Hatch EE, Rothman KJ, Mikkelsen EM, Brogly SB, Sorensen HT, Riis AH, Wise LA. History of oral contraceptive use and risk of spontaneous abortion. Ann Epidemiol. 2015 Dec;25(12):936-941 e. doi: 10.1016/j.annepidem.2015.09.001

Cueto HT, Riis AH, Hatch EE, Wise LA, Rothman KJ, Sorensen HT, Mikkelsen EM. Folic acid supplement use and menstrual cycle characteristics: a cross-sectional study of Danish pregnancy planners. Ann Epidemiol. 2015 Oct;25(10):723-9.e1. doi: 10.1016/j.annepidem.2015.05.008

Shafi MM, Vernet M, Klooster D, Chu CJ, Boric K, Barnard ME, Romatoski K, Westover MB, Christodoulou JA, Gabrieli JDE, Whitfield-Gabrieli S, Pascual-Leone A, Chang BS. Physiological consequences of abnormal connectivity in a developmental epilepsy. Ann Neurol. 2015 Mar;77(3):487-503. doi: 10.1002/ana.24343

Heaton B, Applebaum KM, Rothman KJ, Brooks DR, Heeren T, Dietrich T, Garcia RI. The influence of prevalent cohort bias in the association between periodontal disease progression and incident coronary heart disease. Ann Epidemiol. 2014 Oct;24(10):741-6. doi: 10.1016/j.annepidem.2014.07.006

Rothman KJ, Mosquin PL. Sparse-data bias accompanying overly fine stratification in an analysis of beryllium exposure and lung cancer risk. Ann Epidemiol. 2013 Feb 1;23(2):43-8.

Rothman KJ, Mosquin PL. Confounding after risk-set sampling in the beryllium study of sanderson et al. Ann Epidemiol. 2011 Apr 15;21(10):773-9.

Carnethon MR, Anthony MS, Cascio WE, Folsom AR, Rautaharju PM, Liao D, Evans GW, Heiss G. A prospective evaluation of the risk of QT prolongation with hormone replacement therapy: the atherosclerosis risk in communities study. Ann Epidemiol. 2003 Aug;13(7):530-6.

Johannes CB, Woods J, Crawford S, Cochran H, Tran D, Schuth B. Electronic versus paper instruments for daily data collection. Poster presented at the 2000 the American College of Epidemiology Annual Meeting; 2000. Atlanta, GA. [abstract] Ann Epidemiol. 2000 Oct 1; 10(7):457.

Feldman HA, Johannes CB, McKinlay JB, Longcope C. Low dehydroepiandrosterone sulfate and heart disease in middle-aged men: cross-sectional results from the Massachusetts Male Aging Study. Ann Epidemiol. 1998 May;8(4):218-28.

The Multiple Sclerosis Study Group, Remavich M. Efficacy and toxicity of cyclosporine in chronic progressive multiple sclerosis: a randomized, double-blinded, placebo-controlled clinical trial. Ann Neurol. 1990 Jun;27(6):591-605. doi: 10.1002/ana.410270603