Publications

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Displaying 1 through 30 of 30 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

Kelkar SS, Prabhu VS, Corman S, Odak S, Rusibamayila N, Macahilig C, Orlowski R, Duska L. Treatment patterns and real-world clinical outcomes in patients with advanced endometrial cancer who are microsatellite instability (MSI)-high or are mismatch repair deficient (dMMR) in the United States. Gynecol Oncol. 2023 Feb 1;169:154-63. doi: 10.1016/j.ygyno.2022.10.016

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

Haggerty A, Barrett A, Dine J, Martin L, Shah P, Buckingham T. Shared decision making in frontline maintenance therapy for ovarian cancer: a qualitative assessment. Poster presented at the 2022 Society of Gynecologic Oncology Annual Meeting; March 18, 2022. Phoenix, AZ. [abstract] Gynecol Oncol. 2022 Aug; 166(Supplement 1):S286. doi: 10.1016/S0090-8258(22)01810-8

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

Rageh A, Ashraf M, Fleming A, Silva PS. Automated microaneurysm counts on ultrawide field color and fluorescein angiography images. Semin Ophthalmol. 2021 May 19;36(4):315-21. doi: 10.1080/08820538.2021.1897852

Thomas A, Danon L, Christensen H, Northstone K, Smith D, Nixon E, Trickey A, Hemani G, Sauchelli S, Finn A, Timpson N, Brooks-Pollock E. Limits of lockdown: characterising essential contacts during physical distancing. Wellcome Open Res. 2021 May;6:116. doi: 10.12688/wellcomeopenres.16785.1

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

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

Dizon D, Meyers J. The economic burden of ovarian cancer in a US managed care database. Poster presented at the 41st Annual Meeting of the Society of Gynecologic Oncologists; March 2010. [abstract] Gynecol Oncol. 2010 Mar; 116((3) Suppl 1):S121.

Foster T, Brown TM, Chang J, Menssen HD, Blieden MB, Herzog TJ. A review of the current evidence for maintenance therapy in ovarian cancer. Gynecol Oncol. 2009 Nov 1;115:290-301.

Neubauer NL, Havrilesky LJ, Calingaert B, Bulusu A, Bernardini MQ, Fleming ND, Bland AE, Secord AA. The role of lymphadenectomy in the management of preoperative grade 1 endometrial carcinoma. Gynecol Oncol. 2009 Mar;112(3):511-6.

Bland AE, Calingaert B, Secord AA, Lee PS, Valea FA, Berchuck A, Soper JT, Havrilesky L. Relationship between tamoxifen use and high risk endometrial cancer histologic types. Gynecol Oncol. 2009 Jan 1;112(1):150-4.

Secord AA, Havrilesky LJ, Bae-Jump V, Chin J, Calingaert B, Bland A, Rutledge TL, Berchuck A, Clarke-Pearson DL, Gehrig PA. The role of multi-modality adjuvant chemotherapy and radiation in women with advanced stage endometrial cancer. Gynecol Oncol. 2007 Nov 1;107(2):285-91.

Havrilesky LJ, Secord AA, Bae-Jump V, Ayeni T, Calingaert B, Clarke-Pearson DL, Berchuck A, Gehrig PA. Outcomes in surgical stage I uterine papillary serous carcinoma. Gynecol Oncol. 2007 Jun 1;105(3):677-82.

Havrilesky LJ, Cragun JM, Calingaert B, Secord AA, Valea FA, Clarke-Pearson DL, Berchuck A, Soper JT. The prognostic significance of positive peritoneal cytology and adnexal/serosal metastasis in stage IIIA endometrial cancer. Gynecol Oncol. 2007 Feb 1;104(2):401-5.

Maxwell GL, Schildkraut JM, Calingaert B, Risinger JI, Dainty L, Marchbanks PA, Berchuck A, Barrett JC, Rodriguez GC. Progestin and estrogen potency of combination oral contraceptives and endometrial cancer risk. Gynecol Oncol. 2006 Nov 1;103(2):535-40.

Lutman CV, Havrilesky LJ, Cragun JM, Secord AA, Calingaert B, Berchuck A, Clarke-Pearson DL, Soper JT. Pelvic lymph node count is an important prognostic variable for FIGO stage I and II endometrial carcinoma with high-risk histology. Gynecol Oncol. 2006 Jul 1;102(1):92-7.

Havrilesky LJ, Cragun JM, Calingaert B, Synan I, Secord AA, Soper JT, Clarke-Pearson DL, Berchuck A. Resection of lymph node metastases influences survival in stage IIIC endometrial cancer. Gynecol Oncol. 2005 Dec 1;99(3):689-95.

Spillman MA, Schildkraut JM, Halabi S, Moorman P, Calingaert B, Bentley RC, Marks JR, Murphy S, Berchuck A. Transforming growth factorbeta receptor I polyalanine repeat polymorphism does not increase ovarian cancer risk. Gynecol Oncol. 2005 May 1;97(2):543-9.

Havrilesky LJ, Leath CA, Huh W, Calingaert B, Bentley RC, Soper JT, Secord AA. Radical hysterectomy and pelvic lymphadenectomy for stage IB2 cervical cancer. Gynecol Oncol. 2004 May 1;93(2):429-34.

Vine MF, Calingaert B, Berchuck A, Schildkraut JM. Characterization of prediagnostic symptoms among primary epithelial ovarian cancer cases and controls. Gynecol Oncol. 2003 Jul 1;90(1):75-82.

Vine MF, Ness RB, Calingaert B, Schildkraut JM, Berchuck A. Types and duration of symptoms prior to diagnosis of invasive or borderline ovarian tumor. Gynecol Oncol. 2001 Dec;83(3):466-71.

Bushel PR, Hamadeh H, Bennett L, Sieber S, Martin K, Nuwaysir EF, Johnson K, Reynolds K, Paules RS, Afshari CA. MAPS: a microarray project system for gene expression experiment information and data validation. Bioinformatics. 2001 Jun 1;17(6):564-5.