Brian Gary Skotko MD
Clinical Genetics
Assistant Professor, Massachusetts General Hospital
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185 Cambridge StRm 2222Boston, MA 02114
Phone+1 617-643-3196
Fax+1 617-726-1566
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Education & Training
Boston Children’s Hospital/Harvard Medical SchoolResidency, Medical Genetics and Genomics, 2009 - 2012- Boston Children’s Hospital/Boston Medical CenterResidency, Pediatrics, 2006 - 2009
Harvard Medical SchoolClass of 2006
Harvard Kennedy SchoolM.P.P., Public Policy, 2006
Duke UniversityB.S., Biological Anthropology and Anatomy, Summa cum laude, 1999
Certifications & Licensure
MA State Medical License 2008 - 2026
NH State Medical License 2021 - 2023
ME State Medical License 2021 - 2022
RI State Medical License 2021 - 2022
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- CMS Meaningful Use Stage 2 Certification OpTime Surgical 2014 Certified Module, Epic Systems Corporation, 2015-2017
- CMS Meaningful Use Stage 2 Certification EpicCare Ambulatory 2014 Certified EHR Suite, Epic Systems Corporation, 2015-2017
- CMS Meaningful Use Stage 2 Certification EpicCare Inpatient 2014 Certified EHR Suite, Epic Systems Corporation, 2015-2017
Publications & Presentations
PubMed
- Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society.Fabio Di Domenico, Marzia Perluigi, Antonella Tramutola, Maria Giulia Bacalini, Daniella Balduino Victorino
Neuromolecular Medicine. 2026-06-06 - The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Scr...Jordan T Jones, Nasreen Talib, Emily Cramer, Diletta Valentini, Nicole Baumer
American Journal of Medical Genetics. Part A. 2026-03-01 - Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands.Gert de Graaf, Brian G Skotko
American Journal of Medical Genetics. Part A. 2026-02-01
Journal Articles
- A New Microdeletion Syndrome Involving TBC1D24, ATP6V0C, and PDPK1 Causes Epilepsy, Microcephaly, and Developmental DelayBrian G Skotko, Jessica L Waxler, Nature
- ACMG statement on noninvasive prenatal screening for fetal aneuploidy (Policy Statement)Gregg, A.R., Gross, S.J., Best, R.G., Monaghan, K.G., Bajaj, K., Skotko, B.G., Thompson, B.H., Watson, M.S., Genetics in Medicine, 1/1/2013
- Contributions of a specialty clinic for children with Down syndromeSkotko, B.G., Davidson, E.J., Weintraub, G.S., American Journal of Medical Genetics, Part A, 1/1/2013
Press Mentions
Hypoglossal Nerve Stimulator Implantation Safe for OSA in Children with down SyndromeAugust 15th, 2025- Research Spotlight: Investigating the Safety and Efficacy of a Hypoglossal Nerve Stimulator in Young Children with down SyndromeAugust 5th, 2025
- Canadians with down Syndrome Living Longer, but Still Dying Prematurely, Study SaysJuly 16th, 2025
Grant Support
- Nicotinamide Adenine Dinucleotide Augmentation to Prevent or Reverse the Progression of Alzheimer's Disease in People with Down SyndromeBRIGHAM AND WOMEN'S HOSPITAL2025–2028
- Effects of Hypoglossal Nerve Stimulation on Cognition & Language in Down SyndromeMASSACHUSETTS EYE AND EAR INFIRMARY2020–2025
Professional Memberships
- American College of Medical Genetics and GenomicsFellow
- American Society of Human GeneticsMember
External Links
- personal web pagehttp://www.brianskotko.com
- clinic web pagehttp://www.massgeneral.org/downsyndrome
- research web pagehttp://www.massgeneral.org/downsyndromeresearch
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