Wei Shen - Department of Laboratory Medicine and Pathology, Mayo Clinic

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论文共 18 篇作者统计合作学者相似作者

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P665: Genome Sequencing Defines the Breakpoints of a TP53 Promoter Region Deletion Required for the Purpose of Preimplantation Genetic Testing

Nisha Kanwar, Lidija Gorsic,Laura Rust,Nicole Hoppman,Wei Shen,Myra Wick

Genetics in Medicine Open (2024): 101570

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P003: Clinical Laboratory Experience of Frataxin Quantification in Blood for the Diagnosis of Friedreich Ataxia*

Iris Pantovich,Amy White,April Studinski,Weiyi Mu, Bonnie Kaas,Matthew Bower,Gisele Pino,Dawn Peck,Kyle Salsbery,Emily Lauer,Angela Pickart,Kandelaria Rumilla,Wei Shen,Zhiyv Niu,Patricia Hall,Matthew Schultz,Dimitar Gavrilov,Silvia Tortorelli,Dietrich Matern,Ralitza Gavrilova

Genetics in Medicine Open (2024): 100880

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Variant Detection in 3’ Exons of PMS2 Using Exome Sequencing Data

Nipun A. Mistry, Samantha E. Roellinger, Matthew C. Manninen, Mallika Gandham,Tejaswi Koganti,Jagadheshwar Balan,Shubham Basu,Emily J. Blake,Pratyush P. Tandale,Megan A. Holdren, Megan F. Hoenig,Rhianna M. Urban, Rebecca L. Veith, Matthew C. Kendzior, Chen Wang,Sounak Gupta,Wei Shen

JOURNAL OF MOLECULAR DIAGNOSTICSno. 9 (2024): 843-850

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Advancing Access to Genome Sequencing for Rare Genetic Disorders: Recent Progress and Call to Action

Vaidehi Jobanputra,Brock Schroeder,Heidi L. Rehm,Wei Shen,Elizabeth Spiteri,Ghunwa Nakouzi,Stacie Taylor,Christian R. Marshall,Linyan Meng,Stephen F. Kingsmore,Katarzyna Ellsworth,Euan Ashley,Ryan J. Taft

NPJ GENOMIC MEDICINEno. 1 (2024)

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P060: Spectrum of Genetic Alterations for Hereditary Paraganglioma-Pheochromocytoma Syndrome Testing: Eight-year Experience from a Single Diagnostic Laboratory

Megan Holdren, Rhianna Urban,Megan Hoenig,Dragana Milosevic,Lori Erickson,Alicia Algeciras-Schimnich,Stefan Grebe,Irina Bancos,William Young,Wei Shen,Sounak Gupta

Genetics in medicine openno. 1 (2023): 100079-100079

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Detection of an MN1::ETV6 Gene Fusion in a Case of Acute Myeloid Leukemia with Erythroid Differentiation: A Case Report and Review of the Literature

Lauren A. Choate,Liuyan Jiang, Mariam Iskander,Wei Shen,Linda B. Baughn,Jess F. Peterson

Case Reports in Hematology (2023): 1-6

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Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders

Heidi Sellers,Mariam Stein,Pratyush Tandale,Jiayu Tan,Rohit Setlem,Yuta Sakai,Numrah Fadra,Carlos Sosa, Shawn McClelland,Sarah Barnett,Kristen Rasmussen,Cassandra Runke,Stephanie Smoley, Emma Katzmann,Lori Tillmans,Cherisse Marcou,Ross Rowsey,Erik Thorland,Nicole Boczek,Hutton Kearney,Wei Shen

Journal of Molecular Diagnosticsno. 7 (2023): 524-531

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Detection of an MN1::ETV6 Gene Fusion in a Case of Acute Myeloid Leukemia with Erythroid Differentiation: A Case Report and Review of the Literature

Lauren A Choate,Liuyan Jiang,Mariam I Stein,Wei Shen,Linda B Baughn,Jess F Peterson

Case reports in hematology (2023): 9771388-9771388

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P086: Mosaic Li-Fraumeni Syndrome Identified in Patient with a Previously Presumed Germline Variant Following Preimplantation Genetic Testing: A Case Report

Rhianna Urban,Megan Holdren,Megan Hoenig,Laura Rust,Myra Wick,Matthew Ferber,Zhiyv Niu,Sounak Gupta,Wei Shen

Genetics in medicine openno. 1 (2023): 100105-100105

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30. A Cost-Effective Bioinformatics Triage Strategy for Testing PMS2 Using Short-Read Next Generation Sequencing

Wei Shen,Tejaswi Koganti,Jagadheshwar Balan,Pratyush Tandale,Shubham Basu, Matthew Manninen,Emily Blake,Rohan Gnanaolivu,Nipun Mistry,Feng Li, Samantha Roellinger,Noemi Vidal-Folch,Emily Barr Fritcher,Jesse Voss,Chen Wang,Kevin Halling,Benjamin Kipp,Sounak Gupta

Cancer genetics (2022): 10-11

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