Publications

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Displaying 1 through 32 of 32 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

Talbird SE, Carrico J, La EM, Carias C, Marshall GS, Roberts CS, Chen YT, Nyaku MK. Impact of routine childhood immunization in reducing vaccine-preventable diseases in the US. Pediatrics. 2022 Sep 1;150(3):e20210560. doi: 10.1542/peds.2021-056013

Carrico J, La EM, Talbird SE, Chen YT, Nyaku MK, Carias C, Mellott CE, Marshall GS, Roberts C. Value of the immunization program for children in the 2017 US birth cohort. Pediatrics. 2022 Sep 1;150(3):e20210560. doi: 10.1542/peds.2021-056007

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

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

Sukumaran L, McCarthy NL, Kharbanda EO, Vazquez-Benitez G, Lipkind HS, Jackson L, Klein NP, Naleway AL, McClure DL, Hechter RC, Kawai AT, Glanz JM, Weintraub ES. Infant hospitalizations and mortality after maternal vaccination. Pediatrics. 2018 Mar;141(3):e20173310. doi: 10.1542/peds.2017-3310

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

Margulis AV, Andrews EB. The safety of medications in pregnant women: an opportunity to use database studies. Pediatrics. 2017 Jul;140(1). doi: 10.1542/peds.2016-4194

Kawai AT, Martin D, Kulldorff M, Li L, Cole DV, McMahill-Walraven CN, Selvam N, Selvan MS, Lee GM. Febrile seizures after 2010-2011 trivalent inactivated influenza vaccine. Pediatrics. 2015 Oct;136(4):e848-855. doi: 10.1542/peds.2015-0635

Patrick SW, Kawai AT, Kleinman K, Jin R, Vaz L, Gay C, Kassler W, Goldmann D, Lee GM. Health care-associated infections among critically ill children in the US, 2007-2012. Pediatrics. 2014 Oct;134(4):705-12. doi: 10.1542/peds.2014-0613

Zoega H, Rothman KJ, Huybrechts KF, Olafsson O, Baldursson G, Almarsdottir AB, Jonsdottir S, Halldorsson M, Hernández-Díaz S, Valdimarsdottir UA. A population-based study of stimulant drug treatment of ADHD and academic progress in children. Pediatrics. 2012 Jul 1;130(1):e53-62.

Novick D, Montgomery W, Brnabic A, Aguado J, Kadziola Z, Peng X, Brugnoli R, Haro JM. Prognostic implications of somatic symptoms in patients with depression. Results from a three-month, prospective, observational study from Asia. Poster presented at the 28th CINP World Congress of Neuropsychopharmacology; June 3, 2012. Stockholm, Sweden. [abstract] Int J Neuropsychopharmacol. 2012 Jun; 15(1):191. doi: 10.1017/S1461145712000508

Eap CB, Vandenberghe F, Choong E, Saigi-Morgui N, Ambresin AE, von Gunten A, Conus P. Clinical and pharmacogenetic study on psychotropic drug induced weight gain and other metabolic complications in a Swiss psychiatric population. Poster presented at the 2012 World Congress of the International College of Neuropsychopharmacology; June 2012. Stockholm, Sweden. [abstract] Int J Neuropsychopharmacol. 2012 Jun 1; 15(Suppl 1):101. doi: 10.1017/S1461145712000508

Guxens M, Mendez MA, Molto-Puigmarti C, Julvez J, Garcia-Esteban R, Forns J, Ferrer M, Vrijheid M, Lopez-Sabater MC, Sunyer J. Breastfeeding, long-chain polyunsaturated fatty acids in colostrum, and infant mental development. Pediatrics. 2011 Oct;128(4):e880-9. doi: 10.1542/peds.2010-1633.

Bailey D, Nelson LM, Hebbeler K, Spiker D. Modeling the impact of formal and informal supports for young children with disabilities and their families. Pediatrics. 2007 Oct 1;120(4):e992-e100.

Mahon BE, Ehrenstein V, Norgaard M, Pedersen L, Rothman KJ, Sorensen HT. Perinatal risk factors for hospitalization for pneumococcal disease in childhood: a population-based cohort study. Pediatrics. 2007 Apr 1;119(4):e804-12.

Ehrenstein V, Pedersen L, Holsteen V, Larsen H, Rothman KJ, Sorensen HT. Postterm delivery and risk of epilepsy in childhood. Pediatrics. 2007 Mar 30;119(3):e554-61.

Rein DB, Hicks KA, Wirth KE, Billah K, Finelli L, Fiore AE, Hoerger TJ, Bell BP, Armstrong GL. Cost-effectiveness of routine childhood vaccination for hepatitis A in the United States. Pediatrics. 2007 Jan 1;119(1):e12-21.

Armstrong GL, Billah K, Rein DB, Hicks KA, Wirth KE, Bell BP. The economics of routine childhood hepatitis A immunization in the United States: the impact of herd immunity. Pediatrics. 2007 Jan 1;119(1):E22-9.

Williams VS, Feltner D, Hill C, Morlock R. Evaluation of a global anxiety – Visual analog scale (ga-vas) in a clinical trial comparing lorazepam and paroxetine in patients with gad. Poster presented at the CINP 25th Biennial Congress; July 2006. [abstract] Int J Neuropsychopharmacol. 2006 Jul; 9(Suppl 1):S118.

Galant SP, Melamed IR, Nayak AS, Blake KV, Prillaman BA, Reed KD, Cook CK, Philpot EE, Rickard KA. Lack of effect of fluticasone propionate aqueous nasal spray on the hypothalamic-pituitary-adrenal axis in 2- and 3-year-old patients. Pediatrics. 2003 Jul;112(1 Pt 1):96-100. doi: 10.1542/peds.112.1.96

Whalley D, Huels J, McKenna SP, van Assche D. The benefit of pimecrolimus (Elidel, SDZ ASM 981) on parents' quality of life in the treatment of pediatric atopic dermatitis. Pediatrics. 2002 Dec 1;110(6):1133-6.

Longo C, Raskin J, Gilsenan AW, Corey-Lisle P, Hopkins JS, Sherrill BH. Prevalence of treatment-resistant depression in Saskatchewan - limitations of a claims-based analysis. Int J Neuropsychopharmacol. 2002 Jun 1;5(Suppl 1):S141. doi: 10.1017/S1461145702003176

Talmud PJ, Berglund L, Hawe E, Waterworth DM, Isasi CR, Deckelbaum RE, Starc T, Ginsberg HN, Humphries SE, Shea S. Age-related effects of genetic variation on lipid levels: the Columbia University BioMarkers Study. Pediatrics. 2001;108(3):E50.

Rothman KJ, Pueschel SM. Birth weight of children with phenylketonuria. Pediatrics. 1976 Dec;58(6):842-4.