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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 1, 2022
Central nervous system involvement in individuals with RASopathiesK Nicole Weaver, Karen W Gripp
Cardiology in the Young|October 18, 2023
Phenotypes and genotypes in a cohort of children with single-ventricle CHDElizabeth K Baker, Amy Shikany, David S Winlaw, et al.
American Journal of Medical Genetics. Part A|January 27, 2010
Imperforate anus is a rare associated finding in blepharocheilodontic syndromeK Nicole Weaver, Katherine D Rutledge, John H Grant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2022
Using deep learning and electronic health records to detect Noonan syndrome in pediatric patientsZeyu Yang, Amy Shikany, Yizhao Ni, et al.
JCEM Case Reports|April 23, 2026
Complete glucocorticoid resistance: a lethal disorder in the neonatal periodNatalie Segev, Sarah Swauger, K Nicole Weaver, et al.
Pediatric Radiology|November 29, 2019
Fetal magnetic resonance imaging of skeletal dysplasiasLeah A Gilligan, Maria A Calvo-Garcia, K Nicole Weaver, et al.
Plastic and Reconstructive Surgery|August 23, 2020
Sleep Outcomes in Neonates with Pierre Robin Sequence Undergoing External Mandibular Distraction: A Longitudinal AnalysisZarmina Ehsan, K Nicole Weaver, Brian S Pan, et al.
HGG Advances|August 16, 2024
Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children's hospitalKate Herr, Peixin Lu, Kessi Diamreyan, et al.
NPJ Genomic Medicine|July 21, 2025
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patientsZeyu Yang, Amy Shikany, Ammar Husami, et al.
Genes|October 19, 2016
Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy PatientRose Gelineau-Morel, Marshall Lukacs, K Nicole Weaver, et al.
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