Mapping human genetic diversity in Asia HUGO Pan-Asian SNP Consortium, MA Abdulla, I Ahmed, ... Science 326 (5959), 1541-1545, 2009 | 680 | 2009 |
Current status of newborn screening worldwide: 2015 JA Bradford L. Therrell, Carmencita David Padilla, J. Gerard Loeber, Issam ... Seminars in Perinatology. 39, 171-187, 2015 | 610 | 2015 |
G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map RE Howes, FB Piel, AP Patil, OA Nyangiri, PW Gething, M Dewi, ... PLoS medicine 9 (11), e1001339, 2012 | 576 | 2012 |
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24. 2, 17q23 and 19q13 EJ Leslie, JC Carlson, JR Shaffer, E Feingold, G Wehby, CA Laurie, ... Human molecular genetics 25 (13), 2862-2872, 2016 | 210 | 2016 |
Newborn screening in the Asia Pacific region CD Padilla, BL Therrell Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 190 | 2007 |
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or … EJ Leslie, JC Carlson, JR Shaffer, A Butali, CJ Buxó, EE Castilla, ... Human genetics 136, 275-286, 2017 | 174 | 2017 |
A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3 EJ Leslie, H Liu, JC Carlson, JR Shaffer, E Feingold, G Wehby, CA Laurie, ... The American Journal of Human Genetics 98 (4), 744-754, 2016 | 157 | 2016 |
Genetic dating indicates that the Asian–Papuan admixture through Eastern Indonesia corresponds to the Austronesian expansion THPASNP Consortium PNAS 109 (12), 4574-4579, 2012 | 117* | 2012 |
Cultural beliefs on disease causation in the Philippines: challenge and implications in genetic counseling PJB Abad, ML Tan, MMP Baluyot, AQ Villa, GL Talapian, ME Reyes, ... Journal of community genetics 5, 399-407, 2014 | 69 | 2014 |
Newborn screening progress in developing countries—overcoming internal barriers CD Padilla, D Krotoski, BL Therrell Jr Seminars in perinatology 34 (2), 145-155, 2010 | 69 | 2010 |
Consolidating newborn screening efforts in the Asia Pacific region: networking and shared education CD Padilla, BL Therrell, ... Journal of community genetics 3, 35-45, 2012 | 66 | 2012 |
Newborn screening in the developing countries BL Therrell Jr, CD Padilla Current Opinion in Pediatrics 30 (6), 734-739, 2018 | 65 | 2018 |
Maple syrup urine disease (MSUD)—clinical profile of 47 Filipino patients JY Lee, MA Chiong, SC Estrada, EM Cutiongco-De la Paz, CLT Silao, ... Journal of inherited metabolic disease 31, 281-285, 2008 | 54 | 2008 |
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals JC Carlson, D Anand, A Butali, CJ Buxo, K Christensen, F Deleyiannis, ... Genetic epidemiology 43 (6), 704-716, 2019 | 49 | 2019 |
Association studies of low‐frequency coding variants in nonsyndromic cleft lip with or without cleft palate EJ Leslie, JC Carlson, JR Shaffer, CJ Buxó, EE Castilla, K Christensen, ... American Journal of Medical Genetics Part A 173 (6), 1531-1538, 2017 | 48 | 2017 |
Universal newborn screening: a roadmap for action CP Howson, B Cedergren, R Giugliani, P Huhtinen, CD Padilla, ... Molecular genetics and metabolism 124 (3), 177-183, 2018 | 47 | 2018 |
Prevention of Congenital Disorders and Care of Affected Children: A Consensus Statement. WSR Darmstadt GL, Howson CP, Walraven G, Armstrong RW, Blencowe HK ... JAMA Pediatr. 2016;170(8):790-3 170, 790-3, 2016 | 47* | 2016 |
Empowering newborn screening programs in African countries through establishment of an international collaborative effort BL Therrell, MA Lloyd-Puryear, K Ohene-Frempong, RE Ware, CD Padilla, ... Journal of Community Genetics 11, 253-268, 2020 | 40 | 2020 |
Conference report: second conference of the Middle East and North Africa newborn screening initiative: partnerships for sustainable newborn screening infrastructure and … D Krotoski, S Namaste, RK Raouf, I El Nekhely, M Hindi-Alexander, ... Genetics in Medicine 11 (9), 663-668, 2009 | 40 | 2009 |
Barriers to implementing sustainable national newborn screening in developing health systems BL Therrell Jr, CD Padilla International Journal of Pediatrics and Adolescent Medicine 1 (2), 49-60, 2014 | 39 | 2014 |