Publications by authors named "Wendy Introne"

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Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria.
Francis Rossignol, Kristen S Pan, Monique B Perry, Joy C Bryant, Kevin J O'Brien, Wendy J Introne

Mol Genet Metab· November 2025

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Growth Standards for Children With Smith-Magenis Syndrome (SMS).
Julie Hoover-Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Wendy J Introne

Am J Med Genet A· October 2025

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Diffusion tensor imaging in Chediak Higashi Disease.
Connor J Lewis, Selby I Chipman, Cynthia J Tifft, Camilo Toro, William A Gahl, Wendy J Introne

medRxiv· August 2025

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A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.
Sunny Greene, Mackenzie L Talbert, F Graeme Frost, Patricia M Zerfas, Danielle Springer, Wendy J Introne

Commun Biol· July 2025

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Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
Muhammad Arif, Abhishek Basu, Ben Long G Zuo, Mei Xing G Zuo, Kevin J O'Brien, Wendy J Introne

Am J Respir Cell Mol Biol· July 2025

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Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.
Kendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, Dat Duong, Carlos R Ferreira, Wendy J Introne

J Inherit Metab Dis· May 2025

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Impairment of Renal Function in Hermansky-Pudlak Syndrome.
Tadafumi Yokoyama, Kevin J O'Brien, Tesiya M Franklin, Ben Long G Zuo, Mei Xing G Zuo, Wendy J Introne

Am J Nephrol· April 2025

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Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.
Dawn M Maynard, Bernadette R Gochuico, Hadass Pri Chen, Christopher K E Bleck, Patricia M Zerfas, Wendy J Introne

FEBS Lett· April 2025

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Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
Resat Cinar, Abhishek Basu, Muhammad Arif, Joshua K Park, Charles N Zawatsky, Wendy Introne

Am J Respir Crit Care Med· April 2025

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Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.
Kendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, Dat Duong, Carlos R Ferreira, Wendy J Introne

medRxiv· March 2025

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Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
Prashant Sharma, Jason R McFadden, F Graeme Frost, Thomas C Markello, Dorothy K Grange, Wendy J Introne

Hum Genet· December 2024

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Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Sunny Greene, Ariane Soldatos, Camilo Toro, Wadih M Zein, Joseph Snow, Wendy J Introne

Semin Pediatr Neurol· December 2024

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Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome.
Parand Sorkhdini, Kiran Klubock-Shukla, Selena Sheth, Dongqin Yang, Alina Xiaoyu Yang, Wendy J Introne

JCI Insight· November 2024

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Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial.
Kathryn R Spears, Francis Rossignol, Monique B Perry, Michael A Kayser, Pim Suwannarat, Wendy J Introne

Mol Genet Metab· October 2024

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Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.
Samuel C C Chiang, Laura E Covill, Bianca Tesi, Tessa M Campbell, Heinrich Schlums, Wendy J Introne

Blood· August 2024

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Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective.
Prashant Sharma, Jenny Serra-Vinardell, Wendy J Introne, May Christine V Malicdan

Neural Regen Res· May 2024

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Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
Resat Cinar, Abhishek Basu, Muhammad Arif, Joshua K Park, Charles N Zawatsky, Wendy Introne

medRxiv· May 2024

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Alkaptonuria.
Giulia Bernardini, Daniela Braconi, Andrea Zatkova, Nick Sireau, Mariusz J Kujawa, Wendy J Introne

Nat Rev Dis Primers· March 2024

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Spectrum of mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Wendy J Introne

J Med Genet· February 2024

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Chediak-Higashi syndrome.
Mackenzie L Talbert, May Christine V Malicdan, Wendy J Introne

Curr Opin Hematol· July 2023

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Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony Cougnoux, Wendy J Introne

Cell Mol Life Sci· March 2023

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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S Yarnell, Wendy J Introne

Front Genet· March 2023

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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Wendy J Introne

NPJ Genom Med· February 2023

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