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Page 1
The natural history and osteodystrophy of mucolipidosis types II and III.
David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. David-Vizcarra G, et al. Among authors: alcausin m. J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29. J Paediatr Child Health. 2010. PMID: 20367762 Free PMC article.
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R. Andreucci E, et al. Among authors: alcausin m. Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37. Orphanet J Rare Dis. 2011. PMID: 21658220 Free PMC article.
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. Unger S, et al. Among authors: alcausin m. Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641. Am J Med Genet A. 2010. PMID: 20830804
Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry.
Padilla CD, Therrell BL Jr, Alcausin MMLB, Chiong MAD, Abacan MAR, Reyes MEL, Jomento CM, Dizon-Escoreal MTT, Canlas MAE, Abadingo ME, Posecion JEWC, Abarquez CG, Andal AP, Elizaga ALG, Halili-Mendoza BC, Otayza MPVK, Millington DS. Padilla CD, et al. Among authors: alcausin mmlb. Int J Neonatal Screen. 2022 Jan 19;8(1):8. doi: 10.3390/ijns8010008. Int J Neonatal Screen. 2022. PMID: 35225931 Free PMC article.
External validation of machine learning models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants.
Hawken S, Murphy MSQ, Ducharme R, Bota AB, Wilson LA, Cheng W, Tumulak MJ, Alcausin MML, Reyes ME, Qiu W, Potter BK, Little J, Walker M, Zhang L, Padilla C, Chakraborty P, Wilson K. Hawken S, et al. Among authors: alcausin mml. Gates Open Res. 2021 Jun 21;4:164. doi: 10.12688/gatesopenres.13131.2. eCollection 2020. Gates Open Res. 2021. PMID: 34104876 Free PMC article.
Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines.
Padilla CD, Therrell BL Jr, Alcausin MMLB, de Castro RC Jr, Gepte MBP, Reyes MEL, Jomento CM, Suarez RCN, Maceda EBG, Abarquez CG, Posecion JEWC, Andal AP, Elizaga ALG, Halili-Mendoza BC, Otayza MPVK, Hoppe CC. Padilla CD, et al. Among authors: alcausin mmlb. Int J Neonatal Screen. 2021 Jun 17;7(2):30. doi: 10.3390/ijns7020030. Int J Neonatal Screen. 2021. PMID: 34204320 Free PMC article.