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Human Molecular Genetics|March 28, 2018
Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephalySungkook Hong, Ping Hu, Erich Roessler, et al.American Journal of Medical Genetics. Part A|March 2, 2023
Whither social media and clinical genetics?Chris Gunter, Benjamin D SolomonMedrxiv : the Preprint Server for Health Sciences|February 15, 2023
Analysis of large-language model versus human performance for genetics questionsDat Duong, Benjamin D SolomonThe Journal of Allergy and Clinical Immunology|September 15, 2024
Clustering of clinical symptoms using large language models reveals low diagnostic specificity of proposed alternatives to consensus mast cell activation syndrome criteriaBenjamin D Solomon, Purvesh KhatriEuropean Journal of Human Genetics : EJHG|January 13, 2025
Artificial intelligence in clinical geneticsDat Duong, Benjamin D SolomonEuropean Journal of Human Genetics : EJHG|May 28, 2023
Analysis of large-language model versus human performance for genetics questionsDat Duong, Benjamin D SolomonAmerican Journal of Medical Genetics. Part A|October 27, 2022
Hajdu-Cheney syndrome with atypical cardiovascular abnormalitiesEkanem N Ekure, Ogochukwu Sokunbi, Paul Kruszka, et al.American Journal of Medical Genetics. Part A|September 27, 2006
SIX3 mutations with holoprosencephalyLucilene Arilho Ribeiro, Kenia B El-Jaick, Maximilian Muenke, et al.Development (Cambridge, England)|January 13, 2006
A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancersYongsu Jeong, Kenia El-Jaick, Erich Roessler, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsDaniel E Pineda-Alvarez, Christèle Dubourg, Véronique David, et al.Pageof 29