Publications by authors named "Benjamin Darbro"

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Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome.
Marcelo Melo, Elizabeth Phillippi, Thomas Moninger, Lisa J Stille, Kya Foxx, Benjamin Darbro

HGG Adv· October 2025

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Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.
Olivia J Veatch, Jomol Mathew, Shira Rockowitz, Dustin Baldridge, Alyssa Wetzel, Benjamin Darbro

Ther Adv Rare Dis· July 2025

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UDP-glucose dehydrogenase variants cause dystroglycanopathy.
Anna M Reelfs, Carrie M Stephan, Theresa M Czech, Mary O Cox, Soumya Joseph, Benjamin W Darbro

Ann Clin Transl Neurol· June 2025

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A genetic variant in acts as a modifier of -associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Nathaniel P Mohar, Christopher J Langland, Zachary Darr, Jill Viles, Steven A Moore, Benjamin W Darbro

Sci Adv· April 2025

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Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.
Aline L Petrin, Ligiane Alves Machado-Paula, Austin Hinkle, Luke Hovey, Waheed Awotoye, Benjamin Darbro

Cleft Palate Craniofac J· January 2025

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Genome-wide Machine Learning Analysis of Anosmia and Ageusia with COVID-19.
Lucas Pietan, Elizabeth Phillippi, Marcelo Melo, Hatem El-Shanti, Brian J Smith, Benjamin Darbro

medRxiv· December 2024

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The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner Syndrome.
Catherina T Pinnaro, Blake Irvin Zimmerman, Kelli K Ryckman, Benjamin W Darbro, Andrew W Norris

Horm Res Paediatr· November 2024

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Multi-omic analyses of a twin pair with mirror image cleft lip identifies pathogenic variant in modified by differential methylation upstream of .
Waheed Awotoye, Ligiane A Machado-Paula, Luke Hovey, Henry Keen, Michael Chimenti, Benjamin Darbro

medRxiv· November 2024

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Functional Copy-Number Alterations as Diagnostic and Prognostic Biomarkers in Neuroendocrine Tumors.
Hayley Vaughn, Heather Major, Evangeline Kadera, Kendall Keck, Timothy Dunham, Benjamin Darbro

Int J Mol Sci· July 2024

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Mapping the Evolutionary Space of SARS-CoV-2 Variants to Anticipate Emergence of Subvariants Resistant to COVID-19 Therapeutics.
Roberth Anthony Rojas Chávez, Mohammad Fili, Changze Han, Syed A Rahman, Isaiah G L Bicar, Benjamin W Darbro

PLoS Comput Biol· June 2024

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The Influence of a Genetic Variant in on -Associated Skeletal Muscle Disease.
Nathaniel P Mohar, Efrem M Cox, Emily Adelizzi, Steven A Moore, Katherine D Mathews, Benjamin W Darbro

Int J Mol Sci· April 2024

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Prioritization of Fluorescence In Situ Hybridization (FISH) Probes for Differentiating Primary Sites of Neuroendocrine Tumors with Machine Learning.
Lucas Pietan, Hayley Vaughn, James R Howe, Andrew M Bellizzi, Brian J Smith, Benjamin Darbro

Int J Mol Sci· December 2023

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Mosaicism in -Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review.
Khaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, Alpa Sidhu

Case Rep Genet· November 2023

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CDK4/6-MEK Inhibition in MPNSTs Causes Plasma Cell Infiltration, Sensitization to PD-L1 Blockade, and Tumor Regression.
Jordan L Kohlmeyer, Joshua J Lingo, Courtney A Kaemmer, Amanda Scherer, Akshaya Warrier, Benjamin W Darbro

Clin Cancer Res· September 2023

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CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.
Catherina T Pinnaro, Chloe B Beck, Heather J Major, Benjamin W Darbro

Hum Genet· April 2023

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Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
Lisa A Lansdon, Amanda Dickinson, Sydney Arlis, Huan Liu, Arman Hlas, Benjamin W Darbro

Am J Hum Genet· January 2023

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A comprehensive list of human microdeletion and microduplication syndromes.
Alyssa S Wetzel, Benjamin W Darbro

BMC Genom Data· November 2022

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PRC2 loss drives MPNST metastasis and matrix remodeling.
Qierra R Brockman, Amanda Scherer, Gavin R McGivney, Wade R Gutierrez, Andrew P Voigt, Benjamin Darbro

JCI Insight· October 2022

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and Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Benjamin Darbro

Genes (Basel)· September 2022

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Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Benjamin W Darbro

Hum Mol Genet· July 2022

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Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Megan A Waldrop, Steven A Moore, Katherine D Mathews, Benjamin W Darbro, Livja Medne

Hum Mutat· April 2022

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Additive and Interactive Genetically Contextual Effects of HbA1c on cg19693031 Methylation in Type 2 Diabetes.
Kelsey Dawes, Willem Philibert, Benjamin Darbro, Ronald L Simons, Robert Philibert

Genes (Basel)· April 2022

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Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation.
Christie P Thomas, Sonali Gupta, Margaret E Freese, Kanwaljit K Chouhan, Maisie I Dantuma, Benjamin W Darbro

Transpl Int· December 2021

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Data on the utilization of paraneoplastic syndrome autoantibody testing at an academic medical center.
Matthew D Krasowski, Anna Dolezal, Bryan W Steussy, Michael P Gailey, Benjamin W Darbro

Data Brief· December 2021

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The emerging role of somatic tumor sequencing in the treatment of urothelial cancer.
Lexiaochuan Wen, Cameron J Britton, Rohan Garje, Benjamin W Darbro, Vignesh T Packiam

Asian J Urol· October 2021

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