Brian G. Skotko

Medical Genetics | Pediatrics

185 Cambridge St Rm 2222
Boston, MA 02114

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 129 publications

The impact of distance to specialty and primary care on health outcomes and service use in adults with Down Syndrome.

The impact of distance to specialty and primary care on health outcomes and service use in adults with Down Syndrome.

Journal: Journal of intellectual disabilities : JOID

Published: August 11, 2026

Death in People with Down syndrome: Mortality statistics and novel predictors in US Medicaid and Medicare enrolled adults.

Death in People with Down syndrome: Mortality statistics and novel predictors in US Medicaid and Medicare enrolled adults.

Journal: medRxiv : the preprint server for health sciences

Published: August 01, 2026

Delayed Recognition and Stroke-Predominant Presentation in Down Syndrome-Associated Moyamoya Syndrome.

Delayed Recognition and Stroke-Predominant Presentation in Down Syndrome-Associated Moyamoya Syndrome.

Journal: Stroke

Published: July 24, 2026

Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society.

Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society.

Journal: Neuromolecular medicine

Published: March 13, 2026

Novel predictors of Alzheimer's disease in Down syndrome identified using machine learning.

Novel predictors of Alzheimer's disease in Down syndrome identified using machine learning.

Journal: Journal of Alzheimer's disease : JAD

Published: October 17, 2025

The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research Opportunities.

The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research Opportunities.

Journal: American journal of medical genetics. Part A

Published: August 25, 2025

Countrywide Variables Associated With the Reduction of Fetuses With Down Syndrome.

Countrywide Variables Associated With the Reduction of Fetuses With Down Syndrome.

Journal: American journal of medical genetics. Part A

Published: June 12, 2025

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities.

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities.

Journal: medRxiv : the preprint server for health sciences

Published: June 06, 2025

Development and Validation of a Health Measure for Down Syndrome.

Development and Validation of a Health Measure for Down Syndrome.

Journal: The Journal of pediatrics

Published: May 17, 2025

Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands.

Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands.

Journal: American journal of medical genetics. Part A

Published: May 16, 2025

Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic.

Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic.

Journal: American journal of medical genetics. Part A

Published: May 12, 2025

Hypoglossal nerve stimulator for obstructive sleep apnea in children with down syndrome younger than 13.

Hypoglossal nerve stimulator for obstructive sleep apnea in children with down syndrome younger than 13.

Journal: International journal of pediatric otorhinolaryngology

Published: May 12, 2025

Showing 1-12 of 129

Last Updated: 09/26/2026