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Reports (MDPI)|October 24, 2025
The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case ReportYutaka Furuta, Rory J Tinker, Angela R Grochowsky, et al.Genes|October 26, 2024
The Clinical Spectrum of Mosaic Genetic DiseaseHanabi Geiger, Yutaka Furuta, Suné van Wyk, et al.American Journal of Medical Genetics. Part A|October 22, 2020
Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorderRory J Tinker, George J Burghel, Shruti Garg, et al.American Journal of Medical Genetics. Part A|June 26, 2026
Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond PhenylalanineYutaka Furuta, Shoji Yano, John A Phillips, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2024
Diagnostic delay in monogenic disease: A scoping reviewRory J Tinker, Miles Fisher, Alex F Gimeno, et al.American Journal of Medical Genetics. Part A|February 4, 2026
Syndrome of the Month: Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia Type 2Daniel R Schecter, Danielle Zamalin, V Peter Abdow, et al.Molecular Genetics and Metabolism|February 26, 2022
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosisRory J Tinker, Marni J Falk, Amy Goldstein, et al.American Journal of Medical Genetics. Part A|January 16, 2024
Data from electronic healthcare records expand our understanding of X-linked genetic diseasesRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.Journal of Reconstructive Microsurgery|July 6, 2021
Intraoperative Vasopressor Usage in Free Tissue Transfer: Should We Be Worried?Samuel P Munro, Chad Chang, Rory J Tinker, et al.The Neurohospitalist|June 9, 2025
Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic TestingYutaka Furuta, Neena S Agrawal, Angela R Grochowsky, et al.Pageof 6