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Valerie Trapp-Stamborski, PhD
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Journal Articles

Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

Shruthi Mohan, PhD, Kristy Lee, MS, CGC, Manuel Carcao, Bhavya S Doshi, MD, Kate Downes, PhD, Geoff Kemball-Cook, PhD, Frank Leebeek, MD PhD, Jamie McCreery, MS, CGC, Connie H. Miller, PhD, Amanda B Payne, MPH,PhD, Valerie Trapp-Stamborski, PhD, Barbara A. Konkle, MD, Keith Gomez, MBBS, PhD MRCP, FRCPath
Journal: Blood
Blood (2019) 134 (Supplement_1): 5794.
https://doi.org/10.1182/blood-2019-124842
Published: 2019
Journal Articles

Distribution of Pathogenic Variants in Von Willebrand Disease Type 2A in the American Population: Results from a National Clinical Reference Laboratory

Ruchika Sharma, MD, Juliana Perez-Botero, MD, Mia J Sullivan, BS, MB, Valerie Trapp-Stamborski, PhD, Mitchell Springer, PhD, Taquanda Gilbert, Jamie McCreery, MS, CGC, Stefanie Dugan, MS, CGC, Lijun Wang, MD PhD, Sandra L Haberichter, PhD, Kenneth Dale Friedman, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1181.
https://doi.org/10.1182/blood-2018-99-117620
Published: 2018
Journal Articles

Laboratory-Developed MLPA ® Probes Enable CNV Detection in the CFHR4 Gene to Aid aHUS Genetic Evaluation

Kevin Pirelli, BS, Curt Czajkowski, BS, MT(ASCP), Veronika Mladenova, BS, Stefanie Dugan, MS, CGC, Valerie Trapp-Stamborski, PhD, Kenneth D Friedman, MD, Rupa A Udani, PhD
Journal: Blood
Blood (2016) 128 (22): 1361.
https://doi.org/10.1182/blood.V128.22.1361.1361
Published: 2016
Journal Articles

Genetic Evaluation in aHUS: Characterization of a Variant of Unknown Significance in CFHR3

Valerie Trapp-Stamborski, PhD, Stefanie N Dugan, MS, CGC, Kenneth D Friedman, MD, Matthew Anderson, MD, Rupa A Udani, PhD
Journal: Blood
Blood (2015) 126 (23): 1053.
https://doi.org/10.1182/blood.V126.23.1053.1053
Published: 2015