Samuel J Franklin

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Richard K. Wilson, Ph.D.Nationwide Children's Hospital; Ohio State UniversityVerified email at NationwideChildrens.org
Kim L McBrideUniversity of CalgaryVerified email at UCalgary.ca
Bimal P. ChaudhariNationwide Children's HospitalVerified email at nationwidechildrens.org
saranga wijeratneNationwide Children’s HospitalVerified email at nationwidechildrens.org
Kathleen SchiefferClinical Laboratory Director at the Institute for Genomic Medicine at Nationwide Children's HospitalVerified email at nationwidechildrens.org
Katherine E (Lintner) Miller, PhDNationwide Children's Hospital & The Ohio State University College of MedicineVerified email at nationwidechildrens.org
Stephanie LaHayeTempus Labs, Inc.Verified email at tempus.com
Olivia E. DobbieJohns Hopkins UniversityVerified email at jh.edu

Samuel J Franklin

Bioinformatics Analyst, The Institute for Genomic Medicine at Nationwide Children's

Verified email at nationwidechildrens.org

bioinformatics genomics genetics rare diseases emerging infectious diseases


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Discovery of clinically relevant fusions in pediatric cancer S LaHaye, JR Fitch, KJ Voytovich, AC Herman, BJ Kelly, GE Lammi, ... BMC genomics 22, 1-16, 2021	17	2021
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly M Melas, EA Kautto, SJ Franklin, M Mori, KL McBride, TM Mosher, ... Human Mutation 43 (2), 189-199, 2022	8	2022
De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy MS Latsko, DC Koboldt, SJ Franklin, SE Hickey, RK Williamson, S Garner, ... Molecular Case Studies 8 (4), a006172, 2022	6	2022
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation DK Nolan, B Chaudhari, SJ Franklin, S Wijeratne, R Pfau, ... Clinical Genetics 100 (6), 775-776, 2021	6	2021
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant K Lecerf, DC Koboldt, HS Kuehn, V Jayaraman, K Lee, T Mihalic Mosher, ... Rheumatology 62 (1), 347-359, 2023	5	2023
Novel presentation of hemiplegic migraine in a patient with Cockayne Syndrome J Carroll, L Pabst, DC Koboldt, SJ Franklin, S Choi, RK Wilson, W Lo Pediatric Neurology 138, 95-97, 2023	2	2023
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome M Marhabaie, SE Hickey, K Miller, O Grischow, KM Schieffer, SJ Franklin, ... Molecular Case Studies 7 (6), a006122, 2021	1	2021
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease S Ramadesikan, S Hickey, E De Los Reyes, AD Patel, SJ Franklin, ... Molecular Case Studies 8 (2), a006165, 2022		2022
Outcomes of in-house rapid genome sequencing at a Children’s Hospital B Chaudhari, C Cottrell, V Magrini, P White, A Antoniou, S Choi, B Kelly, ... Molecular Genetics and Metabolism 132, S165-S166, 2021		2021
Determinants of turnaround time in a rapid genome sequencing program B Chaudhari, J Pitts, S Ravagnani, K Leraas, P White, V Magrini, ... Molecular Genetics and Metabolism, S354-S356, 2021		2021

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