Brian Skotko MD, MPP
Rafii MS, Sol O, Mobley WC, Delpretti S, Skotko BG, Burke AD, Sabbagh MN, Yuan SH, Rissman RA, Pulsifer M, Evans C, Evans AC, Beth G, Fournier N, Gray JA, Dos Santos AM, Hliva V, Vukicevic M, Kosco-Vilbois M, Streffer J, Pfeifer A, Feldman HH. (2022).  Safety, Tolerability, and Immunogenicity of the ACI-24 Vaccine in Adults With Down Syndrome: A Phase 1b Randomized Clinical Trial. JAMA Neurol. 79(6):565-574. Article
Yu PK, Stenerson M, Ishman SL, Shott SR, Raol N, Soose RJ, Tobey A, Baldassari C, Dedhia RC, Pulsifer MB, Grieco JA, Abbeduto LJ, Kinane TB, Keamy DG Jr, Skotko BG, Hartnick CJ. (2022). Evaluation of Upper Airway Stimulation for Adolescents With Down Syndrome and Obstructive Sleep Apnea. JAMA Otolaryngol Head Neck Surg. 148(6):522-528. Article , Press Release , NBC Today Health , STAT , Healthline , Medscape , HealthDay
Goeldner C, Kishnani PS, Skotko BG, Casero JL, Hipp JF, Derks M, Hernandez MC, Khwaja O, Lennon-Chrimes S, Noeldeke J, Pellicer S, Squassante L, Visootsak J, Wandel C, Fontoura P, d'Ardhuy XL; Clematis Study Group (2022). A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome. J Neurodev Disord. 14(1):10.  Article
Oreskovic NM, Agiovlasitis S, Patsiogiannis V, Santoro SL, Nichols D, Skotko BG (2022). Brief report: Caregiver perceived physical activity preferences of adults with Down syndrome. J Appl Res Intellect Disabil.  Epub ahead of print, PMID: 35106891. Article
Skotko BG. (2021). Can a Christ child have Down syndrome? Am J Med Genet C Semin Med Genet, 187(2), 213–215. Article
Blake JM, Estrada Gomez D, Skotko BG, Torres A, Santoro SL. (2021). Pneumonia and respiratory infection in Down syndrome: A 10-year cohort analysis of inpatient and outpatient encounters across the lifespan. Am J Med Genet A, 185(10):2878-2887. Article
Hendrix JA, Airey DC, Britton A, Burke AD, Capone GT, Chavez R, Chen J, Chicoine B, Costa ACS, Dage JL, Doran E, Esbensen A, Evans CL, Faber KM, Foroud TM, Hart S, Haugen K, Head E, Hendrix S, Hillerstrom H, Kishnani PS, Krell K, Ledesma DL, Lai F, Lott I, Ochoa-Lubinoff C, Mason J, Nicodemus-Johnson J, Proctor NK, Pulsifer MB, Revta C, Rosas HD, Rosser TC, Santoro S, Schafer K, Scheidemantel T, Schmitt F, Skotko BG, Stasko MR, Talboy A, Torres A, Wilmes K, Woodward J, Zimmer JA, Feldman HH, Mobley W. (2021). Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study. J Clin Med. 10(9):1907.  Article
Stenerson ME, Yu PK, Kinane TB, Skotko BG, Hartnick CJ. (2021). Long-term stability of hypoglossal nerve stimulation for the treatment of obstructive sleep apnea in children with Down syndrome. Int J Pediatr Otorhinolaryngol., 149:110868. Article
Santoro JD, Lee S, Wang AC, Ho E, Nagesh D, Khoshnood M, Tanna R, Durazo-Arvizu RA, Manning MA, Skotko BG, Steinberg GK, Rafii MS (2021). Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease. Front Neurol, 12:724969.  Article
Santoro SL, Brenner-Miller D, Cottrell C, Bress J, Torres A, Skotko BG. (2021). Using a Communication Passport within a Multidisciplinary Genetics Clinic. Pediatr Qual Saf., 6(5):e472. Article
Grieco JA, Hartnick CJ, Skotko BG, Yu PK, Pulsifer MB. (2021). Preliminary Neurocognitive Results Post Hypoglossal Nerve Stimulation in Patients with Down Syndrome. Laryngoscope. 131(12):2830-2833. Article
Santoro SL, Campbell A, Cottrell C, Donelan K, Majewski B, Oreskovic NM, Patsiogiannis V, Torres A, Skotko BG. Piloting the use of global health measures in a Down syndrome clinic.(2021) Journal of Applied Research in Intellectual Disabilities. 34(4):1108-1117 Article
Chung J, Sarathy A, Hsieh YG, Estey G, Torres A, Patsiogiannis V, Donelan K, Skotko BG (2021). Assessment of stakeholder engagement in a Down syndrome research study. J Patient Cent Res Rev. 8:64-7. Article
Yu PK, Jayawardena ADL, Stenerson M, Pulsifer MB, Grieco JA, Abbeduto L, Dedhia RC, Soose RJ, Tobey A, Raol N, Ishman SL, Shott SR, Cohen MS, Skotko BG, Kinane TB, Keamy DG Jr, Hartnick CJ (2020). Redefining Success by Focusing on Failures After Pediatric Hypoglossal Stimulation in Down Syndrome. Laryngoscope. 31(7):1663-1669. Article
Yun HJ, Perez JDR, Sosa P, Valdés JA, Madan N, Kitano R, Akiyama S, Skotko BG, Feldman HA, Bianchi DW, Grant PE, Tarui T, Im K (2021). Regional Alterations in Cortical Sulcal Depth in Living Fetuses with Down Syndrome. Cerebral Cortex, 31: 757-767. Article
Santoro SL, Donelan K, Haugen K, Oreskovic NM, Torres A, Skotko BG (2021). Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome. Am J Med Genet C Semin Med Genet. [published online ahead of print, 2021 Jan 1] Article
Yun HJ, Perez JDR, Sosa P, Valdés JA, Madan N, Kitano R, Akiyama S, Skotko BG, Feldman HA, Bianchi DW, Grant PE, Tarui T, Im K (2021). Regional Alterations in Cortical Sulcal Depth in Living Fetuses with Down Syndrome. Cerebral Cortex, 31: 757-767.  Article
Santoro SL, Donelan K, Haugen K, Oreskovic NM, Torres A, Skotko BG (2021). Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome. Am J Med Genet C Semin Med Genet. 187(1):70-82. Article
de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Europe. European Journal of Human Genetics. 29(3):402-410 Article , Supplementary Materials , Fact sheet , Press release
Chung J, Donelan K, Macklin EA, Schwartz A, Elsharkawi I, Torres A, Hsieh YG, Parker H, Lorenz S, Patsiogiannis V, Santoro SL, Wylie M, Clarke L, Estey G, Baker S, Bauer PE, Bull M, Chicoine B, Cullen S, Frey-Vogel A, Gallagher M, Hasan R, Lamb A, Majewski L, Mast J, Riddell T, Sepucha K, Skavlem M, Skotko BG. (2020). A randomized controlled trial of an online health tool about Down syndrome. Genetics in Medicine. 23(1):163-173 Article , Supplementary Materials , Research Summary , Infographic , Press Release 1 , (en Español) , Press Release 2 , Good Morning America , WCVB ( ABC News ) , Genepod , If We Knew Then podcast , Dr. Velloyd's Podcast
Kats DJ, Patsiogiannis V, Skotko BG (2020). Epileptic Spasms in Patients With Down Syndrome: Experiences From Caregivers. J Child Neurol. 5(12):813-819.  Article
Kats DJ, Roche KJ, Skotko BG. (2020). Epileptic spasms in individuals with Down syndrome: A review of the current literature.  Eplepsia Open.  5(3):344-353 Article
Oreskovic NM, Cottrell C., Torres,A., Patsiogiannis V, Santoro S, Nichols D, Moore C, Skotko BG. (2020). Physical activity patterns in adults with Down Syndrome. Journal of applied research in intellectual disabilities. 33(6):1457-1464.  Article , Press Release
Rosso M, Fremion E, Santoro SL, Oreskovic NM, Chitnis T, Skotko BG, Santoro JD (2020). Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics, 145(6), e20192939.  Article
Santoro JD, Lee S, Mlynash M, Mayne EW, Rafii MS, Skotko BG (2020). Diminished Blood Pressure Profiles in Children With Down Syndrome. Hypertension (3):819-825. Article
Mengel D, Liu W, Glynn RJ, Selkoe DJ, Strydom A, Lai F, Rosas HD, Torres A, Patsiogiannis V, Skotko B, Walsh DM (2020). Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase. Alzheimers Res Ther. 12(1):27.  Article
Antonarakis S, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH (2020).  Down syndrome.  Nat Rev. Dis. Primers6: 9. Article
Santoro SL, Cannon S, Capone G, Franklin C, Hart SJ, Hobensack V, Kishnani PS, Macklin EA, Manickam K, McCormick A, Nash P, Oreskovic NM, Patsiogiannis V, Steingass K, Torres A, Valentini D, Vellody K, Skotko BG (2019). Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genet Med., Early view online
Crombag NM, Page-Christiaens GC, Skotko BG, de Graaf G (2020). Receiving the news of Down syndrome in the era of prenatal testing. Am J Med Genet A. 182(2):374-385. Article Press Release
Joslyn N, Berger H, Skotko BG (2019).  Geospatial analyses of accessibility to Down syndrome specialty care.  The Journal of Pediatrics (19) 31469-6. Article Press Release
Ilacqua A, Benedict J, Shoben A, Skotko BG, Matthews T, Benson B, Allain DC (2019). Alzheimer’s disease development in adults with Down syndrome: Caregivers’ perspectives. Am J Med Genet Part A.,182(1):104-114. Early view online
Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS (2019). Detection of iron deficiency in children with Down syndrome. Genetics in Medicine, 2(2):317-325 Early view online
Tarui T, Im K, Madan N, Madankumar R, Skotko BG, Schwartz A, Sharr C, Ralston SJ, Kitano R, Akiyama S, Yun HJ, Grant E, Bianchi DW (2019). Quantitative MRI Analyses of Regional Brain Growth in Living Fetuses with Down Syndrome. Cerebral Cortex, 30(1):382-390. Article
Skotko BG, Allyse, MA, Bajaj K, Best RG, Klugman S, Leach M, Meredith S, Michie M, Stoll K, Gregg, AR (2019).  Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations. Genetics in Medicine 21(10):2285-2292 Article , Supplementary Material , Press Release , Updated Assessments from Prenatal Research Information Consortium
Skotko BG, Samuelson D, Kageleiry A, Lefebvre P, Hellstern M, Campbell J (2019).  Comment on “The price of abandoning diagnostic testing for cell-free DNA screening.”  Prenatal Diagnosis. 39(2):130. Comment
De Graaf G, Levine SP, Goldstein R, Skotko BG (2019). Parents’ perceptions of functional abilities in people with Down syndrome.  American Journal of Medical Genetics Part A. 179(2): 161-176. Article , Press Release
De Graaf G, Buckley F, Skotko BG (2018).  Brith and population prevalence for Down syndrome in European countries. Poster at World Down Syndrome Congress convention, Glasgow, Scotland, July 25-27, 2018.
Santoro SL, Bartman T, Cua CL, Lemle S, Skotko BG (2018). Use of Electronic Health Record Integration for Down Syndrome Guidelines. Pediatrics 142(3). Article
Lazar J, Woglom C, Chung J, Schwartz A, Hsieh Y, Moore R, Crowley D, Skotko B (2018). Co-Design process of a smart phone app to help people with Down syndrome manage their nutritional habits.  Journal of Usability Studies 13(2): 73-93.  Article
Hutchinson LE, Donelan K, Macklin EA, Green RC, Skotko BG (2018).  Providers Experience with Cell-free DNA Noninvasive Screening at One Hospital.  Report Table 1 Table 2 Table 3
Samuelson D, Kageleiry A, Sheng Duh M, Lefebvre P, Hellstern M, Campbell J, Skotko BG (2018).  Income Growth Trajectory for Parents of Children with Down Syndrome in the United States.  Report
Diercks GR, Wentland C, Keamy D, Kinane TB, Skotko BG, de Guzman V, Grealish E, John Dobrowski J, Soose R, Hartnick CJ (2017). Hypoglossal Nerve Stimulation in Adolescents With Down Syndrome and Obstructive Sleep Apnea. JAMA Otolaryngology-Head & Neck Surgery, 144(1):37-42 Article
Hart S, Visootsak J, Tamburri P, Phuong P, Baumer N, Hernandez M-C, Skotko BG, Ochoa-Lubinoff C, D’Ardhuy X, Kishnani PS, Spiridigliozzi GA (2017). Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date. American Journal of Medical Genetics Part A, 173(11):3029-3041, Article
De Graaf, G., Buckley, F., Dever, J., Skotko, B.G. (2017).  Estimation of live birth and population prevalence of Down syndrome in nine U.S. states.  American Journal of Medical Genetics, Part A, 173(10):2710-2719, Supplementary Material Article Data for Figure 4 Data for Figure 5 Press Release
Jayaratne, Y.S.N., Elsharkawi, I., Macklin, E., Voelz, L., Weintraub, G., Rosen, D., Skotko, B.G. (2017).  The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea.  American Journal of Medical Genetics, Part A, 73(11):3013-3021 Article
Rafii, M.S., Skotko, B.G., McDonough, M.E., Pulsifer, M., Evans, C., Doran, E..,  Muranevici, G., Kesslak, P., Abushakrah, S., Lott, I., for the ELND005-DS Study Group.  (2017).  A Randomized, Double-Blind, Placebo-Controlled, Phase II Study of Oral ELND005 (scyllo-Inositol) in Young Adults with Down Syndrome without Dementia.  Journal of Alzheimer’s Disease, 58:401–411. Article Online Information
Allyse, M., Aypar, U., Bonhomme, N., Darilek, S., Doughtery, M., Farrell, R., Grody, W., Highsmith, W.E., Michie, M., Nunes, M., Otto, L., Pabst, R., Palomaki, G., Runke, C., Sharp, R.R., Skotko, B., Stoll, K. Wick, M. (2017). Offering Prenatal Screening in the Age of Genomic Medicine: A Practice Guide. Journal of Women’s Health, 26(7):755-761. Article
Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler T, Vellody K, Voelz L, Skotko B. (2017). Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. American Journal of Medical Genetics Part A, 173A:1539-1545. Article
Elsharkawi I, Gozal D, Macklin EA, Voelz L, Weintraub G, Skotko BG. (2017). Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome.  Sleep Medicine, 34:84-89.  Article Press Release
Skotko BG, Macklin EA, Muselli M, Voelz L, McDonough ME, Davidson E, Allareddy V, Jayaratne YSN, Bruun R, Ching N, Weintraub G, Gozal D, Rosen D. (2017). A predictive model for obstructive sleep apnea and Down syndrome. American Journal of Medical Genetics Part A, 73(4):889-896.  Article Supplementary Materials , Press release
Kageleiry A, Samuelson D, Duh MS, Lefebvre P, Campbell J, Skotko BG. (2017). Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome. American Journal of Medical Genetics Part A, 173(3):627-637.  Article Press Release
Allareddy V, Ching N, Macklin EA, Voelz L, Weintraub G, Davidson E, Albers Prock L, Rosen D, Bruun, R, Skotko BG. (2016).  Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome.  Progress in Orthodontics, 17(1):35. Article
De Graaf G, Buckley F, Skotko B. (2016).  Estimation of the number of people with Down syndrome in the United States.  Genetics in Medicine, 19(4):437-447.  Article , Supplementary Material , Press Release , Fact Sheet
Sharr C, Lavigne J, Elsharkawi IMA, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG.  (2016). Detecting celiac disease in patients with Down syndrome. American Journal of Medical Genetics, Part A 170A: 3098-3105. Article
Skotko, B.G., Tenenbaum, A. (2016).  Down syndrome.  In Rubin, I.L., Merrick, J., Greydanus, D.E., Patel, D.R. (Eds.)  Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. New York: Springer. Textbook
Roberts, M., Skotko, B.  (2016). Down syndrome. In Domino FJ (Ed.), www.5MinuteConsult.com, Philadelphia: Wolters Kluwer.
Anthony R. Gregg, Brian G. Skotko, Judith L. Benkendorf, Kristin G. Monaghan, Komal Bajaj, Robert G. Best, Susan Klugman, and Michael S. Watson; on behalf of the ACMG Noninvasive Prenatal Screening Work Group (2016).  Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.  Genetics in Medicine 18(10):1056-1065. Article
Jacobs, J., Schwartz, A., McDougle, C., Skotko, B.G. (2016). Rapid Clinical Deterioration in an Individual with Down Syndrome. American Journal of Medical Genetics Part A 170(7): 1899–1902. Article
Diercks, G.R., Keamy D., Kinane, T.B., Skotko, B., Schwartz, A., Grealish, E., Dobrowski, J., Soose, R., Hartnick, C. (2016). Hypoglossal Nerve Stimulator Implantation in an Adolescent with Down Sydnrome and Sleep Apnea. Pediatrics 137(5):e20153663.  Article Pres Release
de Graaf, G., Buckley, F., Skotko, B.G. (2016).  Live births, natural losses, and elective terminations with Down syndrome in Massachusetts.  Genetics in Medicine 18: 459–466 Article
Skotko, B.G., Levine, S.P., Macklin, E.A., Goldstein, R.D. (2016). Family perspectives about Down syndrome. American Journal of Medical Genetics Part A 170(4): 930–941. Article Supplementary Materials , Press Release
de Graaf, G., Buckley, F., Skotko, B.G. (2015).  Estimates of the live births, natural losses and elective terminations with down syndrome in the United States. American Journal of Medical Genetics, Part A 167A:756–767. Article , Supplementary Materials , Fact Sheet
Lavigne, J., Sharr, C., Ozonoff, A., Prock, L.A., Baumer, N., Brasington, C., Cannon, S., Crissman, B., Davidson, E., Florez, J.C., Kishnani, P., Lombardo, A., Lyerly, J., McCannon, J.B., McDonough, M.E., Schwartz, A., Berrier, K.L., Sparks, S., Stock-Guild, K., Toler, T.L., Vellody, K., Voelz, L., Skotko, B.G. (2015). National Down syndrome patient database: Insights from the development of a multi-center registry study. American Journal of Medical Genetics Part A 167A:2520–2526. Article
Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., Schwartz, A. (2015).  Down Syndrome: Cognitive and Behavioral Functioning Across the Lifespan.  American Journal of Medical Genetics, Part C 169C:135-149. Article
Gregg, A.R., Gross, S.J., Best, R.G., Monaghan, K.G., Bajaj, K., Skotko, B.G., Thompson, B.H., Watson, M.S., are the Noninvasive Prenatal Screening Working Group of the American College of Medical Genetics (2013).  ACMG Statement on Noninvasive Prenatal Screening for Fetal Aneuploidy.  Genetics in Medicine 15(5): 395-398. Article
Skotko, B.G., Davidson, E.J., Weintraub, G.S. (2013).  Contributions of a specialty clinic for children and adolescents with Down syndrome.  American Journal of Medical Genetics, Part A 161(3):430-437. Article Article (Español)
Leach, M., Skotko, B.G. (2012). Resources available for informed prenatal decisions. (Letter to the Editor). Genetics in Medicine: 14:348-349. Letter to the Editor
Skotko, B.G., Leach, M. (2011).  Physicians need to offer up-to-date information about Down syndrome to expectant couples to inform decision-making [E-letter]. Pediatrics. October 17, 2011. Letter to the Editor
Skotko, B.G., Levine, S.P., Goldstein, R. (2011).  Having a Son or Daughter with Down Syndrome: Perspectives from Mothers and Fathers.  American Journal of Medical Genetics Part A 155:2335-2347.  Press Release Article Survey (in Supplementary Materials) , Corrigendum
Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Having a Brother or Sister with Down Syndrome:  Perspectives from Siblings.  American Journal of Medical Genetics Part A: 155:2348-2359.  Article Press Release Survey (in Supplementary Materials)
Skotko, B.G., Levine, S.P., Goldstein, R. (2011).  Self-perceptions from People with Down Syndrome.  American Journal of Medical Genetics, Part A: 155:2360-2369. Article Press Release Survey (in Supplementary Materials)
Rosen, D., Lombardo A., Skotko, B., Davidson, E.J. (2011).  Parental perceptions of sleep disturbances and sleep-disordered breathing in children with Down syndrome.  Clinical Pediatrics, 50:121-125. Article
Skotko, B., Capone, G., & Kishnani, P. for the Down Syndrome Diagnosis Study Group (2009).  Postnatal diagnosis of Down syndrome: Synthesis of the evidence on how best to deliver the news.  Pediatrics,124: e751-e758.  Article Press Release Summary in Spanish
Skotko, B. (2009).  With new prenatal testing, will babies with Down syndrome slowly disappear? Archives of Disease in Childhood, 94: 823-826. Article Press release with video
Skotko, B. (2009).  “Driving Forward.”  InThicker than Water: Essays by Adult Siblings of People with Disabilities. Ed. Don Meyer.  Bethesda, MD: Woodbine House
Skotko, B. & Levine S. P. (2009). Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters.  Bethesda, MD: Woodbine House
Skotko, B. (2007).  Letter to the editor: First- and second-trimester evaluation of risk for Down syndrome. Obstetrics and Gynecology, 110: 1426 Article
Skotko, B. (2006).  Letter to the editor: A surprising postnatal diagnosis.  Obstetrics and Gynecology, 108: 1297. Article
Skotko, B., & Levine, P. (2006).  What the other children are thinking: Brothers and sisters of persons with Down syndrome.  American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 142C:180-6. Article Press Release
Skotko, B.  (2006).  Words matter: The importance of nondirective language in first-trimester assessments for Down syndrome.  American Journal of Obstetrics and Gynecology. 195:625-26 Article
Skotko, B. (2006).  Letter to the editor: Comparing Three Screening Strategies for Combining First- and Second-Trimester Down Syndrome Markers.Obstetrics & Gynecology. 107:1170.  Article
Skotko, B., Canal, R. (2006). Continuing a Pregnancy After Receiving a Prenatal Diagnosis of Down Syndrome in Spain. Progresos en Diagnostico y Tratamiento Prenatal. 17: 189-92. Article English Version Survey
Skotko, B. (2005). Mothers of children with Down syndrome reflect on their postnatal support.Pediatrics. 115: 64-77.  Article Summary Press Release Survey
Skotko, B. (2005). Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers. American Journal of Obstetrics & Gynecology,192: 670-77. Article Summary Press Release Survey
Skotko, B., & Canal, R. (2005). Postnatal support for mothers of children with Down syndrome.Mental Retardation, 43: 196-212. Article Survey
Skotko, B. (2005). Communicating the postnatal diagnosis of Down syndrome: An international call for change. Italian Journal of Pediatrics, 31: 237-243.  Article Press Release
Skotko, B., & Canal, R. (2004). Apoyo postnatal para madres de niños con síndrome de Down.Revista Síndrome de Down, 21: 54-71. Article
Skotko, B. & Kidder C. (2001). Common Threads: Celebrating Life with Down Syndrome. Rochester Hills: Band of Angles Press
Grant N, Von Handorf R, Karaa A, Skotko BG. (2021). The experiences and support needs of siblings of people with mucopolysaccharidosis. Am J Med Genet A, 185(11):3418-3426. Article
Coluzzi E, Pannone L, Andreoli C, Clementina Radio F, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Louw Roos J, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M (2019). Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 Sep 5;105(3):493-508. Article
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM (2018). A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.Genetics in Medicine, 2019 21(5):1058-1064. Article
Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A,  Banka S, Bourgois A, Coubes C,  Cytrynbaum C, Faivre L,  Marion G, Horton R, Kotzot D,  Lay-Son G, Lees M, Low K, Luk H-M,  Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C,  Shears D, Skotko B, Stewart F,  Stewart H,  Temple IK,  Mau-Them FT,  Verdugo RA,  Weksberg R, Zarate YA, Graham JM, Tatton-Brown K (2019). HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. American Journal of Medical Genetics Part A, 2019 early view online. Article
Skotko, B., Rubin, D., & Tupler, L. (2008). H.M.’s personal crossword puzzles: Understanding memory and language. Memory, 16: 89-96. Article
Skotko, B., Andrews, A., & Einstein, G. (2005). Language and the Medial Temporal Lobe: Evidence from H.M.’s Spontaneous Discourse. Journal of Memory and Language, 53: 397-415. Article
Skotko, B., Kensinger, E., Locascio, J., Einstein, G., Rubin, D., Tupler L., Krendl, A., & Corkin, S. (2004). Puzzling thoughts for H.M.: Can new semantic information be anchored to old semantic memories? Neuropsychology, 18: 756-69 Article
Skotko, B., Koppenhaver, D., & Erickson, K. (2004). Parent reading behaviors and communication outcomes in girls with Rett syndrome. Exceptional Children, 70(2): 145-66. Article Parent & Child Codes
Koppenhaver, D., Erickson, K., Harris, B., McLellan, J., Skotko, B., & Newton, R. (2001). Storybook-based communication intervention for girls with Rett syndrome and their mothers.Disability and Rehabilitation, 23: 149-159. Article
Koppenhaver, D., Erickson, K., Skotko, B. (2001). Supporting communication of girls with Rett syndrome and their mothers in storybook reading. International Journal of Disability, Development, and Education, 48: 395-410. Article
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