Andrea H. Seeley

Andrea H. Seeley

Medical Genetics
120 Hamm Drive
Lewisburg, PA 17837

Last Updated: 09/26/2026

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Found 17 publications

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Journal: The Journal of clinical investigation
Published: January 28, 2025

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics
Published: June 16, 2024

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.

Journal: Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews
Published: January 05, 2024

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Journal: Science translational medicine
Published: May 31, 2023

Axenfeld-Rieger syndrome: more than meets the eye.

Axenfeld-Rieger syndrome: more than meets the eye.

Journal: Journal of medical genetics
Published: April 22, 2022

Orthopaedic Management of Loeys-Dietz Syndrome: A Systematic Review.

Orthopaedic Management of Loeys-Dietz Syndrome: A Systematic Review.

Journal: Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews
Published: April 02, 2021

Hip Dysplasia and Osteogenesis Imperfecta: A Case Report.

Hip Dysplasia and Osteogenesis Imperfecta: A Case Report.

Journal: JBJS case connector
Published: January 12, 2021

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Journal: Epilepsia
Published: December 17, 2020

Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Journal: Cancer research
Published: February 25, 2020

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.

Journal: BMC pediatrics
Published: February 25, 2020

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 13, 2020

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 23, 2019
Showing 1-12 of 17

Last Updated: 09/26/2026