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Molecular Genetics and Metabolism Reports|June 27, 2017
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan childrenDanika Nadeen Senanayake, Eresha A Jasinge, Kirit Pindolia, et al.American Journal of Medical Genetics. Part A|September 27, 2015
Isodicentric Y mosaicism involving a 46, XX cell line: Implications for managementLauren E Hipp, Lauren H Mohnach, Sainan Wei, et al.Human Genetics|April 10, 2003
Connexin 26 35delG does not represent a mutational hotspotCaryn R Rothrock, Alessandra Murgia, Edi L Sartorato, et al.Cancer Genetics and Cytogenetics|September 30, 2010
Nearly identical near-haploid karyotype in a peritoneal mesothelioma and a retroperitoneal malignant peripheral nerve sheath tumorWilliam R Sukov, Rhett P Ketterling, Sainan Wei, et al.JCO Precision Oncology|January 31, 2024
Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional StudyMegan L Hutchcraft, Shulin Zhang, Nan Lin, et al.Journal of Personalized Medicine|August 26, 2022
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine PatientsMegan Leigh Hutchcraft, Shulin Zhang, Nan Lin, et al.Journal of Medical Genetics|January 5, 2023
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelinesXi Luo, Jamie L Maciaszek, Bryony A Thompson, et al.International Journal of Neonatal Screening|April 30, 2021
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive ToolsAlexander D Rowe, Stephanie D Stoway, Henrik Åhlman, et al.Pageof 3