Publications by authors named "Ryan Taft"

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Multi-omics analysis of a pig-to-human decedent kidney xenotransplant.
Eloi Schmauch, Brian D Piening, Alexa K Dowdell, Maedeh Mohebnasab, Simon H Williams, Ryan Taft

Nature· November 2025

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Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder.
Brianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, Leonardo Ramos-Rodriguez, Devin M Burris, Ryan J Taft

HGG Adv· September 2025

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Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Alka Malhotra, Erin Thorpe, Alison J Coffey, Revathi Rajkumar, Josephine Adjeman, Ryan J Taft

HGG Adv· July 2025

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Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Thomas Minten, Sarah Bick, Sophia Adelson, Nils Gehlenborg, Laura M Amendola, Ryan J Taft

Genet Med· July 2025

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First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC).
Nadine Nsiangani Lusambo, Patrick Fuanani, Gerrye Mubungu, Prince Makay, Mamy Ngole, Ryan J Taft

Ann Hum Genet· July 2025

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variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Raffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, Guy Helman, Leslie E Sanderson, Ryan J Taft

medRxiv· July 2025

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Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report.
Leonardo Cruz-Criollo, Wilhelm Dávila-Salazar, Elison Sarapura-Castro, Andrea Rivera-Valdivia, Jeny Bazalar-Montoya, Ryan J Taft

Clin Neurol Neurosurg· April 2025

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Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Thomas Minten, Sarah Bick, Sophia Adelson, Nils Gehlenborg, Laura M Amendola, Ryan J Taft

medRxiv· March 2025

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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Alban Ziegler, Carrie Koval-Burt, Denise M Kay, Sharon F Suchy, Amber Begtrup, Ryan J Taft

JAMA· January 2025

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Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Jeny Bazalar-Montoya, Mario Cornejo-Olivas, Milagros M Duenas-Roque, Nelson Purizaca-Rosillo, Richard S Rodriguez, Ryan J Taft

NPJ Genom Med· October 2024

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Germline mutations in a G protein identify signaling cross-talk in T cells.
Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Ryan J Taft

Science· September 2024

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Erin Thorpe, Taylor Williams, Chad Shaw, Evgenii Chekalin, Julia Ortega, Ryan J Taft

Am J Hum Genet· July 2024

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A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
Cesar Chacaltana-Vinas, Patricia Ramirez-Pajares, Alid Manrique-Palomino, Amanda R Clause, Aditi Chawla, Ryan Taft

Mov Disord Clin Pract· June 2024

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A framework for the evaluation and reporting of incidental findings in clinical genomic testing.
Carolyn M Brown, Laura M Amendola, Anjana Chandrasekhar, R Tanner Hagelstrom, Gillian Halter, Ryan J Taft

Eur J Hum Genet· June 2024

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Development of a comprehensive cardiovascular disease genetic risk assessment test.
Laura M Amendola, Alison J Coffey, Josh Lowry, James Avecilla, Alka Malhotra, Ryan J Taft

medRxiv· May 2024

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Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Anjana Chandrasekhar, Henry J Mroczkowski, Nora Urraca, Andrew Gross, Krista Bluske, Ryan J Taft

Am J Med Genet A· March 2024

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Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Vaidehi Jobanputra, Brock Schroeder, Heidi L Rehm, Wei Shen, Elizabeth Spiteri, Ryan J Taft

NPJ Genom Med· March 2024

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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Kristen M Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L Taylor, Ryan J Taft

NPJ Genom Med· February 2024

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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Ryan J Taft

Genet Med· December 2023

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The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Samin A Sajan, Carolyn M Brown, Laura Davis-Keppen, Kaitlyn Burns, Erin Royer, Ryan J Taft

Am J Med Genet A· December 2023

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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Amanda R Clause, Julie P Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Ryan J Taft

Cell Genom· February 2023

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Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.
Xiao Chen, Fei Shen, Nina Gonzaludo, Alka Malhotra, Cande Rogert, Ryan J Taft

Pharmacogenomics J· December 2022

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Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Guy Helman, Parand Zarekiani, Samantha A M Tromp, Ashley Andrews, Lorenzo D Botto, Ryan J Taft

Ann Neurol· November 2022

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PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
Prince Makay, Gerrye Mubungu, Aimée Mupuala, Krista Bluske, Carolyn Brown, Ryan J Taft

Am J Med Genet A· September 2022

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Best practices for the interpretation and reporting of clinical whole genome sequencing.
Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, David Bick, Ryan J Taft

NPJ Genom Med· April 2022

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