| Familial Aicardi–Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures RC Dale, H Gornall, D Singh‐Grewal, M Alcausin, GI Rice, YJ Crow American journal of medical genetics Part A 152 (4), 938-942, 2010 | 91 | 2010 |
| Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features S Unger, E Lausch, A Rossi, A Mégarbané, D Sillence, M Alcausin, ... American journal of medical genetics Part A 152 (10), 2543-2549, 2010 | 80 | 2010 |
| TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families E Andreucci, S Aftimos, M Alcausin, E Haan, W Hunter, P Kannu, B Kerr, ... Orphanet journal of rare diseases 6, 1-8, 2011 | 61 | 2011 |
| The natural history and osteodystrophy of mucolipidosis types II and III G David‐Vizcarra, J Briody, J Ault, M Fietz, J Fletcher, R Savarirayan, ... Journal of paediatrics and child health 46 (6), 316-322, 2010 | 53 | 2010 |
| Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age MB Alcausin, J Briody, V Pacey, J Ault, M McQuade, C Bridge, ... Hormone research in paediatrics 79 (6), 333-340, 2013 | 47 | 2013 |
| Screening pathways through China, the Asia Pacific region, the World V Wiley, D Webster, G Loeber International Journal of Neonatal Screening 5 (3), 26, 2019 | 17 | 2019 |
| Successful implementation of expanded newborn screening in the Philippines using tandem mass spectrometry CD Padilla, BL Therrell, MMLB Alcausin, MAD Chiong, MAR Abacan, ... International journal of neonatal screening 8 (1), 8, 2022 | 8 | 2022 |
| A Master of Science in Genetic Counseling Program in the Philippines PEMC Laurino MY, Padilla CP, Alcausin MB, Silao CLT Acta Medica Philippina 45 (4), 7-9, 2011 | 8 | 2011 |
| Successful implementation of newborn screening for hemoglobin disorders in the Philippines CD Padilla, BL Therrell Jr, MMLB Alcausin, RC de Castro Jr, MBP Gepte, ... International Journal of Neonatal Screening 7 (2), 30, 2021 | 6 | 2021 |
| External validation of machine learning models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants S Hawken, MSQ Murphy, R Ducharme, AB Bota, LA Wilson, W Cheng, ... Gates Open Research 4, 2020 | 4 | 2020 |
| Prevalence of birth defects among neonates born at the Philippine General Hospital from 2011 to 2014 EBG Maceda, MMLB Alcausin Acta Medica Philippina 51 (3), 2017 | 4 | 2017 |
| AB058. Newborn screening in preterm babies at the Newborn Screening Center-National Institutes of Health, Manila: impact, implications, and outcomes on its first year of … AG Dion-Berboso, I Carluen-Nario, G Valeza, MML Alcausin Annals of Translational Medicine 3 (Suppl 2), AB058-AB058, 2015 | 3 | 2015 |
| ISNS 9th International Symposium, The Hague, The Netherlands, September 11–14, 2016 G Loeber International Journal of Neonatal Screening 2 (3), 5, 2016 | 2 | 2016 |
| Intravenous Pamidronate Treatment in Filipino Children with Moderate to Severe Osteogenesis Imperfecta. PEMC Alcausin MB, de Dios, JKL, Chiong MD, Cavan BCV, Padilla CP, Silao CLT Acta Medica Philippina 45 (4), 35-39, 2011 | 2 | 2011 |
| A five–year review of cases referred to the Genetics Clinic, PGH for findings of congenital anomalies on prenatal ultrasound CG Abarquez, MMB Alcausin, C David-Padilla, EM Cutiongco-de la Paz Acta Medica Philippina 43 (1), 2009 | 2 | 2009 |
| Intravenous pamidronate treatment on children with moderate to severe osteogenesis imperfecta started less than 36 months of age MB Alcausin, J Ault, V Pacey, J Briody, M McQuade, DO Sillence, ... Bone, S90-S91, 2009 | 2 | 2009 |
| Telegenetics services in a tertiary hospital: utility and patient satisfaction IAV Herlao, EBG Maceda, MAR Abacan, LG de Castro Hamoy, ... Acta Medica Philippina 57 (8), 2023 | 1 | 2023 |
| Carnitine-acylcarnitine Translocase Deficiency with c. 199-10T> G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing SMG Carmona, MAR Abacan, MMLB Alcausin International Journal of Neonatal Screening 9 (1), 4, 2023 | 1 | 2023 |
| Functional outcomes of an adult with osteogenesis imperfecta after rehabilitation post bilateral Girdlestone procedure I Supnet, JE Abiera, MML Alcausin, CE Sumpaico BMJ Case Reports CP 14 (4), e239884, 2021 | 1 | 2021 |
| Birth Defects at the Outpatient Department of the Philippine General Hospital from 2000-2010 CD Padilla, MMP Baluyot, ALD Sur, RJE Merencilla, MMLB Alcausin Acta Medica Philippina 51 (3), 2017 | 1 | 2017 |
