Publications

Search our bibliography using the filters on the right-hand side.

Displaying 1 through 29 of 29 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

Gatz JL, Armstrong MA, Postlethwaite D, Raine-Bennett T, Chillemi G, Alabaster A, Merchant M, Reed SD, Ichikawa L, Getahun D, Fassett MJ, Shi JM, Xie F, Chiu VY, Im TM, Takhar HS, Wang J, Saltus CW, Ritchey ME, Asiimwe A, Pisa F, Schoendorf J, Wahdan Y, Zhou X, Hunter S, Anthony MS, Peipert JF. Association between intrauterine device type and risk of perforation and device expulsion: results from the APEX-IUD study. Am J Obstet Gynecol. 2022 Jul 1;227(1):57.e1-57.. doi: 10.1016/j.ajog.2022.03.062

Getahun D, Fassett MJ, Gatz J, Armstrong MA, Peipert JF, Raine-Bennett T, Reed SD, Zhou X, Schoendorf J, Postlethwaite D, Shi JM, Saltus CW, Wang J, Xie F, Chiu VY, Merchant M, Alabaster A, Ichikawa LE, Hunter S, Im TM, Takhar HS, Ritchey ME, Chillemi G, Pisa F, Asiimwe A, Anthony MS. Association between menorrhagia and risk of intrauterine device-related uterine perforation and device expulsion: results from the APEX-IUD Study. Am J Obstet Gynecol. 2022 Jun;399(10341):2103-12. doi: 10.1016/j.ajog.2022.03.025

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

Anthony MS, Reed SD, Armstrong MA, Getahun D, Gatz JL, Saltus CW, Zhou X, Schoendorf J, Postlethwaite DA, Raine-Bennett T, Fassett MJ, Peipert JF, Ritchey ME, Ichikawa LE, Lynen R, Alabaster AL, Merchant M, Chiu VY, Shi JM, Xie F, Hui SL, Wang J, Hunter S, Bartsch J, Frenz AK, Chillemi G, Im TM, Takhar HS, Asiimwe A. Design of the association of uterine perforation and expulsion of intrauterine device study: a multisite retrospective cohort study. Am J Obstet Gynecol. 2021 Jun;224(6):599.e1. doi: 10.1016/j.ajog.2021.01.003.

DiSantostefano RL, Sutphin J, Hedrick JA, Klein K, Mansfield C. Parent preferences for delaying insulin dependence in children at risk of Stage III Type 1 Diabetes. Diabetes Technol Ther. 2020 Mar 11. doi: 10.1089/dia.2019.0444.

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

Wesselink AK, Rothman KJ, Hatch EE, Mikkelsen EM, Sorensen HT, Wise LA. Age and fecundability in a North American preconception cohort study. Am J Obstet Gynecol. 2017 Dec 14;217(6):667.e1-8.. doi: 10.1016/j.ajog.2017.09.002

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

Weiss H, Hassan SS, Martell B, DiBenedetti D, Zhou X, Reynolds M, Berghella V. Assessing screening and treatment patterns for short cervical length (SCL) in pregnancy. Poster presented at the 37th Annual Society for Maternal Fetal Medicine (SMFM): the Pregnancy Meeting; January 23, 2017. Las Vegas, NV. [abstract] Am J Obstet Gynecol. 2017 Jan; 216(Supplement 1):S241.

Boggess K, Butler A, Layton JB, Li D, Hudgens M, McGrath L, Weber D, Becker-Dreps S. Tdap vaccination rates among 1.2 million privately insured pregnant women, 2010-2014. Poster presented at the 37th Annual Meeting of the Society for Maternal Fetal Medicine: The Pregnancy Meeting; January 2017. Las Vegas, NV. [abstract] Am J Obstet Gynecol. 2017 Jan; 216(Suppl 1):S204. doi: 10.1016/j.ajog.2016.11.594

Nillni YI, Wesselink AK, Gradus JL, Hatch EE, Rothman KJ, Mikkelsen EM, Wise LA. Depression, anxiety, and psychotropic medication use and fecundability. Am J Obstet Gynecol. 2016 Oct;215(4):453.e1-8. doi: 10.1016/j.ajog.2016.04.022

Alamo-Junquera D, Sunyer J, Iniguez C, Ballester F, Garcia-Esteban R, Forns J, Turner MC, Lertxundi A, Lertxundi N, Fernandez-Somoano A, Rodriquez-Dehli C, Julvez J. Prenatal head growth and child neuropsychological development at age 14 months. Am J Obstet Gynecol. 2015 May;212(5):661e1-e11. doi: 10.1016/j.ajog.2014.12.001

Gabbay RA, McGinley (Miller) EL. Editorial - The Affordable Care Act, technology, and type 1 diabetes mellitus. Diabetes Technol Ther. 2014 Dec;16(12):819-21. doi: 10.1089/dia.2014.0258

Taylor TN, Farkouh RA, Graham JB, Colligs A, Lindemann M, Lynen R, Candrilli SD. Potential reduction in neural tube defects associated with use of metafolin-fortified oral contraceptives in the United States. Am J Obstet Gynecol. 2011 Nov 1;205(5):460.e1-8.

Morales E, Guerra S, Garcia-Esteban R, Guxens M, Alvarez-Pedrerol M, Bustamante M, Estivill X, Anto JM, Sunyer J. Maternal C-reactive protein levels in pregnancy are associated with wheezing and lower respiratory tract infections in the offspring. Am J Obstet Gynecol. 2011 Feb;204(2):164.e1-9. doi: 10.1016/j.ajog.2010.08.056

Rebordosa C, Kogevinas M, Horváth-Puhó E, Nørgård B, Morales M, Czeizel AE, Vilstrup H, Sørensen HT, Olsen J. Acetaminophen use during pregnancy: effects on risk for congenital abnormalities. Am J Obstet Gynecol. 2008 Feb;198(2):178 e-1-7.

Moorman PG, Schildkraut JM, Calingaert B, Halabi S, Berchuck A. Menopausal hormones and risk of ovarian cancer. Am J Obstet Gynecol. 2005 Jul 1;193(1):75-82.

Suparto IH, Williams JK, Cline JM, Anthony MS, Fox JL. Contrasting effects of two hormone replacement therapies on the cardiovascular and mammary gland outcomes in surgically postmenopausal monkeys. Am J Obstet Gynecol. 2003 May;188(5):1132-40.

Milunsky A, Jick SS, Bruell CL, MacLaughlin DS, Tsung YK, Jick H, Rothman KJ, Willett W. Predictive values, relative risks and overall benefits of high and low maternal serum alpha-fetoprotein screening in singleton pregnancies. New epidemiologic data. Am J Obstet Gynecol. 1989 Aug 1;161(2):291-7. doi: 10.1016/0002-9378(89)90501-2

Rosenberg L, Hennekens CH, Rosner B, Belanger C, Rothman KJ, Speizer FE. Early menopause and the risk of myocardial infarction. Am J Obstet Gynecol. 1981 Jan 1;139(1):47-51.

Suit HD, Sedlacek R, Fagundes L, Goitein M, Rothman KJ. Time distribution of recurrences of an immunogenic and non-immunogenic tumor following local irradiation. Radiat Res. 1978 Feb;73(2):251-66.