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Molecular Genetics and Metabolism Reports|November 30, 2016
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiencyKristin K Deeb, Jirair K Bedoyan, Raymond Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disabilityJennifer Malinowski, David T Miller, Laurie Demmer, et al.
Clinical Genetics|December 4, 2024
Comprehensive Analysis of TEK Variants in Patients With Vascular MalformationsReza Ghasemi, Meagan M Corliss, Kevin M Bowling, et al.
The Journal of Molecular Diagnostics : JMD|July 24, 2025
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic MedicineAlexa Dickson, Kelsey R Cone, Barbara K Fortini, et al.
Clinical Genetics|October 22, 2024
Modified Rules for Classification of Variants Associated With Disorders of Somatic MosaicismFernando Zazueta Leon-Quintero, Kevin M Bowling, Alexa Dickson, et al.
American Journal of Human Genetics|October 5, 2019
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative CohortSamantha N McNulty, Michael J Evenson, Meagan M Corliss, et al.
Cancer Genetics|December 6, 2023
Clinical whole-genome sequencing and FISH identify two different fusion partners for NUP98 in a patient with acute myeloid leukemia: A case reportBahareh A Mojarad, Zachary D Crees, Molly C Schroeder, et al.
Frontiers in Pediatrics|October 17, 2022
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerationsRodrigo Tzovenos Starosta, Ying-Chen Claire Hou, Katelyn Leestma, et al.
Genetics in Medicine Open|December 13, 2024
Profiling PIK3CA variants in disorders of somatic mosaicismBahareh A Mojarad, Patricia V Hernandez, Michael J Evenson, et al.
Histopathology|April 26, 2023
Intraosseous hibernoma: clinicopathologic and imaging analysis of 18 casesChiraag N Gangahar, Carina A Dehner, David P Wang, et al.
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