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Brian Skotko

Physician · Mass General Brigham

Credentials: · ·

History

Mass General Brigham · GENERAL HOSPITAL CORP
Present

Medical Genetics and Genomics
Boston Children's Hospital
2010–2012
Pediatrics
Boston Children's Hospital
2006–2007
Harvard Medical School
2002–2006
Duke University
1998–2002

Research

Down syndrome
Review · Nature Reviews Disease Primers · 2020 · 686 citations
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
Genetics in Medicine · 2016 · 493 citations
Down syndrome: Cognitive and behavioral functioning across the lifespan
Review · American journal of medical genetics. Part C · 2015 · 267 citations

SS
Stephanie Santoro
33 papers
Nicolas Oreskovic
20 papers
Priya Kishnani
16 papers · 1 as a resident
KK
Kavita Krell
14 papers · 2 as a resident
Kishore Vellody
10 papers
CH
Christopher Hartnick
9 papers
Jonathan Santoro
8 papers
MR
Michael Rafii
8 papers
NB
Nicole Baumer
8 papers · 4 as a fellow
JL
Julie Levison
7 papers
AS
Alison Schwartz
6 papers
Andrew McCormick
6 papers

Grants

Nicotinamide Adenine Dinucleotide Augmentation to Prevent or Reverse the Progression of Alzheimer's Disease in People with Down Syndrome
National Institute on Aging · R01
PI · $1.6M · Brigham and Women's Hospital
2025–2028
Repurposing a Reverse Transcriptase Inhibitor To Target Retrotransposons and Prevent Alzheimer's Disease in People with Down Syndrome: A Two-Phase UG3/UH3 Clinical Drug Development Program
National Institute on Aging · UG3
PI · $1.5M · Brigham and Women's Hospital
2026–2028
Effects of Hypoglossal Nerve Stimulation on Cognition & Language in Down Syndrome
National Institute on Deafness and Other Communication Disorders · U01
PI · $4M · Massachusetts Eye and Ear Infirmary
2020–2027
Predicting Obstructive Sleep Apnea in Down Syndrome
National Institute of Child Health and Human Development · F32
Contact PI · $116.2K · Massachusetts General Hospital
2011–2013

Clinical trials

An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
Principal investigator · Completed
Massachusetts General Hospital
2017–2019