Publications by authors named "Samuel Strohbehn"

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Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.
Jonathan Marquez, Stephen Viviano, Fahmid Rahman, Samuel D Strohbehn, Aimee Allworth

J Inherit Metab Dis· July 2025

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Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.
Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, Elliott Swanson, Jason G Underwood, Samuel Strohbehn

Nat Genet· February 2025

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Dual diagnosis of -related mitochondrial complex III deficiency and recessive -related cataracts.
Elizabeth E Blue, Samuel J Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Samuel Strohbehn

Rare· August 2024

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Acute and chronic kidney function decline in patients receiving BRAF/MEK inhibitors for melanoma.
Kavita Mistry, Sophia Zhao, Ian Strohbehn, Qiyu Wang, Paul Hanna, Samuel Strohbehn

Nephrol Dial Transplant· May 2024

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Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Samuel Strohbehn

Neurol Genet· October 2023

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Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, Elliott Swanson, Jason G Underwood, Samuel Strohbehn

bioRxiv· September 2023

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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Jonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, Giuseppe Albano, Danny E Miller, Samuel Strohbehn

Ann Clin Transl Neurol· June 2023

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Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Samuel Strohbehn

bioRxiv· February 2023

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Effect of Cancer Stage on Adverse Kidney Outcomes in Patients Receiving Immune Checkpoint Inhibitors for Melanoma.
Qiyu Wang, Ian A Strohbehn, Sophia Zhao, Harish Seethapathy, Samuel D Strohbehn

Kidney Int Rep· November 2022

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Acute kidney injury after ruxolitinib: Common complication, uncommon cause.
Samuel Strohbehn, Harish Seethapathy, Nifasha Rusibamayila, Ian Strohbehn, Meghan Lee

Am J Hematol· July 2020

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Acute Kidney Injury Following Encorafenib and Binimetinib for Metastatic Melanoma.
Harish Seethapathy, Halla Bates, Donald F Chute, Ian Strohbehn, Samuel Strohbehn

Kidney Med· April 2020

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Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples.
Ivan P Gorlov, Claudio W Pikielny, Hildreth R Frost, Stephanie C Her, Michael D Cole, Samuel D Strohbehn

BMC Bioinformatics· November 2018

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