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Journal of Pathology Informatics|October 21, 2022
A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testingSachleen Tuteja, Sabah Kadri, Kai Lee YapJournal of Clinical Medicine|March 17, 2025
Hemophagocytic Lymphohistiocytosis with Predominant T-Lymphocytes in Young Child: An Unusual Presentation of Evolving Acute Myeloid LeukemiaAida I Richardson, Kai Lee Yap, Katrin Leuer, et al.Molecular Genetics & Genomic Medicine|February 17, 2021
Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroidsSun Young Kim, Alexander Ing, Shunyou Gong, et al.Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|April 19, 2021
Primary Biphasic Hepatic Sarcoma in DICER1 SyndromeSharlene C See, Nitin R Wadhwani, Kai Lee Yap, et al.American Journal of Medical Genetics. Part A|April 4, 2024
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemiaAndy Drackley, Merlene Peter, Pamela Rathbun, et al.Diagnostic Cytopathology|February 7, 2022
Cytology-histology correlation of myoepithelial tumors harboring EWSR1-POU5F1 fusions: A report of two casesIan A Gelarden, Lucy Fu, Kai Lee Yap, et al.Human Mutation|March 11, 2026
Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction ToolsAndy Drackley, Andrew D Skol, Casey M Rand, et al.Haematologica|February 27, 2025
B-cell lymphoblastic leukemia/lymphoma with mutated IKZF1 N159Y: clinical and genetic features of an emerging entityEmily N Alvey, Kai Lee Yap, Pamela Rathbun, et al.Pediatric Rheumatology Online Journal|March 27, 2025
Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studiesLauren M Pachman, Amer Khojah, Gabrielle Morgan, et al.Journal of Pediatric Hematology/Oncology|March 4, 2025
Novel SMARCA4 Variant in an Infant With Atypical Teratoid Rhabdoid TumorShria K Haldipurkar, Sudarshawn N Damodharan, Pamela Rathbun, et al.Pageof 5