BrianGarySkotkoMD

Medical Genetics • Boston, MA

Clinical Genetics

Assistant Professor, Massachusetts General Hospital

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Office
185 Cambridge St
Rm 2222
Boston, MA 02114
Phone+1 617-643-3196

Fax+1 617-726-1566

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

Down Syndrome Association Star Award Down Syndrome Association of San Diego, 2013
Good Catch Award Children's Hospital Boston, 2012
Allen Crocker, M.D., Health Services Award MA Department of Developmental Services, Executive Office of Health & Human Services, 2012
Allen C. Crocker Award of Excellence Massachusetts Down Syndrome Congress, 2012
Gunnar Dybwad Leadership Award MA Department of Developmental Services, Executive Office of Health & Human Services, 2011
Pediatric Loan Repayment Award National Institutes of Health, 2010
Dean's Community Service Award Harvard Medical School, 2008
Christian Pueschel Memorial Research Award National Down Syndrome Congress, 2008
Presidential Scholars Public Service Initiative Award Harvard Medical School, 2006
President's Award National Down Syndrome Society, 2006
Down Syndrome Community Service Award National Down Syndrome Society, 2005
Knowles Fellow Harvard University, 2004
Margaret Schneider Austin Scholarship Harvard Kennedy School, 2004
Jack Kent Cooke Scholarship Jack Kent Cooke Foundation, 2004
National Book Award TASH, 2003
Diversity Ambassador Award American Red Cross, 2003
National Media Award National Down Syndrome Congress, 2002
Faculty Scholar Duke University, 2001
All American Academic First Team USA Today, 2001
Lord Rothermere Scholarship Duke University/Oxford University, 1999
Angier B. Duke Memorial Scholarship Duke University, 1997
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Publications & Presentations

PubMed

Upper Airway Stimulation for Children and Adolescents with Down Syndrome: Long-Term Follow-Up.
Danielle R Larrow, Kathryn S Marcus, Kevin Gipson, Brian G Skotko, Cristina M Baldassari
The Laryngoscope. 2025-03-01
Use of the Adaptive Behaviour Dementia Questionnaire in a Down Syndrome Specialty Clinic.
Nicolas M Oreskovic, Ayesha Harisinghani, Caroline Bregman, Clorinda Cottrell, Margaret Pulsifer
Journal of Integrative Neuroscience. 2025-01-21
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003-2022.
Jonathan M Artal, Lindsey Randall, Sabina Rubeck, Megan Allyse, Marsha Michie
American Journal of Medical Genetics. Part A. 2025-01-19

Journal Articles

A New Microdeletion Syndrome Involving TBC1D24, ATP6V0C, and PDPK1 Causes Epilepsy, Microcephaly, and Developmental Delay
Brian 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 syndrome
Skotko, B.G., Davidson, E.J., Weintraub, G.S., American Journal of Medical Genetics, Part A, 1/1/2013
Resources available for informed prenatal decisions (Letter to the Editor)
Leach, M., Skotko, B.G., Genetics in Medicine, 1/1/2012
Having a Son or Daughter with Down Syndrome: Perspectives from Mothers and Fathers
Skotko, B.G., Levine, S.P., Goldstein, R., American Journal of Medical Genetics Part A, 1/1/2011
Self-perceptions from People with Down Syndrome
Skotko, B.G., Levine, S.P., Goldstein, R., American Journal of Medical Genetics, Part A, 1/1/2011
Having a Brother or Sister with Down Syndrome: Perspectives from Siblings
Skotko, B.G., Levine, S.P., Goldstein, R., American Journal of Medical Genetics Part A, 1/1/2011
Parental perceptions of sleep disturbances and sleep-disordered breathing in children with Down syndrome
Rosen, D., Lombardo, A., Skotko, B., & Davidson, EJ, Clinical Pediatrics, 1/1/2011
With new prenatal testing, will babies with Down syndrome slowly disappear?
Skotko, B., Archives of Disease in Childhood, 1/1/2009
Prenatal diagnosis of Down syndrome: How best to deliver the news
Skotko, B., Kishnani, P., & Capone, G. for the Down Syndrome Diagnosis Study Group, American Journal of Medical Genetics, Part A, 1/1/2009
HM's personal crossword puzzles: Understanding memory and language
Skotko, B., Rubin, D., & Tupler, L., Memory, 1/1/2008
First- and Second-Trimester Evaluation of Risk for Down Syndrome (Letter to the Editor)
Skotko, B., Obstetrics and Gynecology, 1/1/2007
What the other children are thinking: Brothers and sisters of persons with Down syndrome
Skotko, B., & Levine, S. P., American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 1/1/2006
Comparing Three Screening Strategies for Combining First- and Second-Trimester Down Syndrome Markers (Letter to the Editor)
Skotko, B., Obstetrics & Gynecology, 1/1/2006
Words matter: The importance of nondirective language in first-trimester assessments for Down syndrome (Letter to the Editor)
Skotko, B., American Journal of Obstetrics and Gynecology, 1/1/2006
A surprising postnatal diagnosis (Letter to the Editor)
Skotko, B., Obstetrics and Gynecology, 1/1/2006
Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers
Skotko, B., American Journal of Obstetrics & Gynecology, 1/1/2005
Continuing a Pregnancy After Receiving a Prenatal Diagnosis of Down Syndrome in Spain
Skotko, B., Bedia, R., Progresos en Diagnostico y Tratamiento Prenatal, 1/1/2005
Language and the Medial Temporal Lobe: Evidence from HM's Spontaneous Discourse
Skotko, B., Andrews, A., & Einstein, G., Journal of Memory and Language, 1/1/2005
Communicating the postnatal diagnosis of Down syndrome: An international call for change
Skotko, B., Italian Journal of Pediatrics, 1/1/2005
Postnatal support for mothers of children with Down syndrome
Skotko, B., & Canal, R., Mental Retardation, 1/1/2005
Parent reading behaviors and communication outcomes in girls with Rett syndrome
Skotko, B., Koppenhaver, D., & Erickson, K., Exceptional Children, 1/1/2004
Apoyo postnatal para madres de niños con syndrome de Down
Skotko, B., & Canal, R., Revista Sindrome de Down, 1/1/2004
Puzzling thoughts for HM: Can new semantic information be anchored to old semantic memories?
Skotko, B., Kensinger, E., Locascio, J., Einstein, G., Rubin, D., Tupler L., Krendl, A., & Corkin, S., Neuropsychology, 1/1/2004
Supporting communication of girls with Rett syndrome and their mothers in storybook reading
Koppenhaver, D., Erickson, K., Skotko, B., International Journal of Disability, Development, and Education, 1/1/2001
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Press Mentions

People With down Syndrome Are Living Longer, but the Health System Still Treats Many as KidsApril 17th, 2023
Tongue Stimulation Device Reduces Sleep Apnea in Adolescents with down SyndromeApril 21st, 2022
For People with down Syndrome, a Longer Life, but Under a CloudApril 7th, 2022
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