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Molecular Genetics and Metabolism|October 10, 2025
Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuriaFrancis Rossignol, Kristen S Pan, Monique B Perry, et al.American Journal of Medical Genetics. Part A|September 29, 2020
Diagnosis of Chediak Higashi disease in a 67-year old womanDavid S Yarnell, Joseph C Roney, Cláudia Teixeira, et al.Human Genetics|February 19, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsSeth I Berger, Carla Ciccone, Karen L Simon, et al.Frontiers in Genetics|March 27, 2023
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndromeChulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, et al.Ophthalmology Science|November 7, 2022
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal HypoplasiaVolha V Malechka, Dat Duong, Keyla D Bordonada, et al.American Journal of Medical Genetics. Part A|October 29, 2018
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variantChen G Han, Kevin J O'Brien, Lea M Coon, et al.Neurology|March 6, 2016
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Andrew R Cullinane, et al.Communications Biology|July 18, 2025
A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotypeSunny Greene, Mackenzie L Talbert, F Graeme Frost, et al.Journal of Medical Genetics|October 3, 2023
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literatureMarie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, et al.Neurology|February 15, 2017
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Catherine A Groden, et al.Pageof 5