| Retrospective study of obesity in children with Down syndrome JS Basil, SL Santoro, LJ Martin, KW Healy, BA Chini, HM Saal The Journal of pediatrics 173, 143-148, 2016 | 141 | 2016 |
| Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines GT Capone, B Chicoine, P Bulova, M Stephens, S Hart, B Crissman, ... American Journal of Medical Genetics Part A 176 (1), 116-133, 2018 | 128 | 2018 |
| De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome JH Kim, DN Shinde, MRF Reijnders, NS Hauser, RL Belmonte, GR Wilson, ... The American Journal of Human Genetics 99 (3), 711-719, 2016 | 101 | 2016 |
| Health supervision for children and adolescents with Down syndrome MJ Bull, T Trotter, SL Santoro, C Christensen, RW Grout, ... Pediatrics 149 (5), e2022057010, 2022 | 97 | 2022 |
| A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome SRF Twigg, RB Hufnagel, KA Miller, Y Zhou, SJ McGowan, J Taylor, ... The American Journal of Human Genetics 98 (6), 1256-1265, 2016 | 83 | 2016 |
| CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum EDH Konrad, N Nardini, A Caliebe, I Nagel, D Young, G Horvath, ... Genetics in Medicine 21 (12), 2723-2733, 2019 | 59 | 2019 |
| Opportunities, barriers, and recommendations in Down syndrome research JA Hendrix, A Amon, L Abbeduto, S Agiovlasitis, T Alsaied, HA Anderson, ... Translational science of rare diseases 5 (3-4), 99-129, 2020 | 54 | 2020 |
| Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database SL Santoro, S Cannon, G Capone, C Franklin, SJ Hart, V Hobensack, ... Genetics in Medicine 22 (4), 767-776, 2020 | 51 | 2020 |
| Down syndrome disintegrative disorder: a clinical regression syndrome of increasing importance M Rosso, E Fremion, SL Santoro, NM Oreskovic, T Chitnis, BG Skotko, ... Pediatrics 145 (6), 2020 | 47 | 2020 |
| Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature SL Santoro, B Chicoine, JM Jasien, JL Kim, M Stephens, P Bulova, ... American Journal of Medical Genetics Part A 185 (1), 286-299, 2021 | 44 | 2021 |
| Council on Genetics MJ Bull, T Trotter, SL Santoro, C Christensen, RW Grout, LW Burke, ... Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ …, 2022 | 40 | 2022 |
| Use of electronic health record integration for Down syndrome guidelines SL Santoro, T Bartman, CL Cua, S Lemle, BG Skotko Pediatrics 142 (3), 2018 | 37 | 2018 |
| Congenital heart disease in Down syndrome–A review of temporal changes SL Santoro, EH Steffensen Journal of Congenital Cardiology 5, 1-14, 2021 | 33 | 2021 |
| Physical activity patterns in adults with Down Syndrome NM Oreskovic, C Cottrell, A Torres, V Patsiogiannis, S Santoro, D Nichols, ... Journal of Applied Research in Intellectual Disabilities 33 (6), 1457-1464, 2020 | 31 | 2020 |
| Down Syndrome Medical Interest Group DSMIG-USA Adult Health Care Workgroup. Co-occurring medical conditions in adults with Down syndrome: a systematic review toward the … GT Capone, B Chicoine, P Bulova, M Stephens, S Hart, B Crissman, ... Am J Med Genet A 176 (1), 116-133, 2018 | 31 | 2018 |
| Stakeholder buy-in and physician education improve adherence to guidelines for Down syndrome SL Santoro, LJ Martin, SI Pleatman, RJ Hopkin The Journal of pediatrics 171, 262-268. e2, 2016 | 30 | 2016 |
| Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations AE Lin, S Santoro, FA High, P Goldenberg, I Gutmark‐Little American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 28 | 2020 |
| An assessment of health, social, communication, and daily living skills of adults with Down syndrome TJ Matthews, DC Allain, AL Matthews, A Mitchell, SL Santoro, L Cohen American Journal of Medical Genetics Part A 176 (6), 1389-1397, 2018 | 28 | 2018 |
| Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II G Capone, M Stephens, S Santoro, B Chicoine, P Bulova, M Peterson, ... American Journal of Medical Genetics Part A 182 (7), 1832-1845, 2020 | 27 | 2020 |
| Differences in mortality characteristics in neonates with Down’s syndrome CL Cua, U Haque, S Santoro, L Nicholson, CH Backes Journal of Perinatology 37 (4), 427-431, 2017 | 26 | 2017 |
Brian Skotko, M.D., M.P.P.Emma Campbell Endowed Chair on Down Syndrome, Massachusetts General HospitalVerified email at partners.org
