Publications

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Displaying 1 through 15 of 15 publications.

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

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

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

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

Alford SH, Divine G, Chao C, Habel LA, Janakiraman N, Wang Y, Feigelson HS, Scholes D, Roblin D, Epstein MM, Engel L, Havstad S, Wells K, Yood MU, Fortuny J, Johnson CC, Cancer Research Network Lymphoma Study Group. Serum cholesterol trajectories in the 10 years prior to lymphoma diagnosis. Cancer Causes Control. 2018 Jan;29(1):143-56. doi: 10.1007/s10552-017-0987-7

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

Lupo PJ, Danysh HE, Skapek SX, Hawkins DS, Spector LG, Zhou R, Okcu MF, Papworth K, Erhardt EB, Grufferman S. Maternal and birth characteristics and childhood rhabdomyosarcoma: a report from the Children's Oncology Group. Cancer Causes Control. 2014 Jul;25(7):905-13. doi: 10.1007/s10552-014-0390-6.

Carsin AE, Drummond FJ, Black A, van Leeuwen PJ, Sharp L, Murray LJ, Connolly D, Egevad L, Boniol M, Autier P, Comber H, Gavin A. Impact of PSA testing and prostatic biopsy on cancer incidence and mortality: comparative study between the Republic of Ireland and Northern Ireland. Cancer Causes Control. 2010 Sep;21(9):1523-31. doi: 10.1007/s10552-010-9581-y

Hoyo C, Berchuck A, Halabi S, Bentley RC, Moorman P, Calingaert B, Schildkraut JM. Anthropometric measurements and epithelial ovarian cancer risk in african–american and white women. Cancer Causes Control. 2005 Oct 1;16(8):955-63.

Harris DH, Bates JH, Cress R, Tabnak F, Wright WE. Stage of breast cancer diagnosis among medically underserved women in California receiving mammography through a state screening program. Cancer Causes Control. 2004 Sep;15(7):721-9.

Moorman PG, Schildkraut JM, Calingaert B, Halabi S, Vine MF, Berchuck A. Ovulation and ovarian cancer: a comparison of two methods for calculating lifetime ovulatory cycles. Cancer Causes Control. 2002 Nov;13(9):807-11.