Samuel J Franklin

Samuel J Franklin

Nationwide Children's Hospital - Columbus / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 5595698
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person_outline Samuel J Franklin's MOST POPULAR ARTICLES
1-) Discovery of clinically relevant fusions in pediatric cancerS LaHaye, JR Fitch, KJ Voytovich, AC Herman, BJ Kelly, GE Lammi, ...BMC genomics 22, 1-16, 2021172021
2-) Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactylyM Melas, EA Kautto, SJ Franklin, M Mori, KL McBride, TM Mosher, ...Human Mutation 43 (2), 189-199, 202282022
3-) Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variantK Lecerf, DC Koboldt, HS Kuehn, V Jayaraman, K Lee, T Mihalic Mosher, ...Rheumatology 62 (1), 347-359, 202362023
4-) De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathyMS Latsko, DC Koboldt, SJ Franklin, SE Hickey, RK Williamson, S Garner, ...Molecular Case Studies 8 (4), a006172, 202262022
5-) Hypomorphic alleles pose challenges in rare disease genomic variant interpretationDK Nolan, B Chaudhari, SJ Franklin, S Wijeratne, R Pfau, ...Clinical Genetics 100 (6), 775-776, 202162021