Author

Lily Guo

New York State Office for People With Developmental Disabilities

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:experimental assay· 1

Frequent Co-Authors

Elaine J. Marchi· 3 shared Gholson J. LyoniD· 3 shared Drake C. CarteriD· 2 shared Edward Yi· 2 shared Kathleen Sarino· 2 shared Ola Kierzkowska· 2 shared Anastassia VoronovaiD· 1 shared Carmela Beger· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Elaine J. Marchi

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Functional Assessment and Impact of Seizures on Cognitive Outcome in a Cohort of Individuals with KBG Syndrome

Kathleen Sarino, Lily Guo, Edward Yi, Jiyeon Park, Ola Kierzkowska, Drake C. Carter, Elaine J. Marchi, Gholson J. Lyon

This study assesses the impact of seizures on cognitive outcomes in individuals with KBG syndrome using Vineland-3 assessments and medical records.

medRxiv · Apr 17, 2024 · PreprintGenetic & Genomic Medicine

Ocular Manifestations in a Cohort of 43 Patients with KBG Syndrome

Drake C. Carter, Ola Kierzkowska, Kathleen Sarino, Lily Guo, Elaine J. Marchi, Gholson J. Lyon

This study reports the prevalence of ophthalmological conditions in 43 KBG syndrome patients, finding higher rates of strabismus and refractive errors compared to literature.

American Journal of Medical Genetics Part A · Nov 14, 2023Peer-reviewedGenetic & Genomic Medicine

KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients

Lily Guo, Jiyeon Park, Edward Yi, Elaine J. Marchi, Tzung‐Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Anastassia Voronova, Peter Michael Krawitz, Gholson J. Lyon

This study reports on 25 new KBG syndrome patients, identifies common clinical features, and provides recommendations for diagnosis and treatment.

medRxiv · Nov 18, 2021 · PreprintGenetic & Genomic Medicine