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: Evaluation of Phenotype-Genotype Correlation in Two Common PIEZO1 Mutations p.R2456H and p.L2495_E2495dup

Researchers

Presenter

  • Mary Risinger

Principal Investigators

  • Vandy Black

  • Loan Hsieh

  • Renee C. Prins

  • Jill Menell

  • Mohamad Badawi

  • Cynthia Rutherford

  • Karen L. Bride

  • Omar Niss

  • Charles T. Quinn

  • Katie Giger Seu

  • Wenying Zhang

  • Theodosia A. Kalfa

Medical Centers

  • College of Nursing, University of Cincinnati, Cincinnati, OH

  • Cancer and Blood Diseases Institute, Cincinnati Childrens Hospital Medical Center, Cincinnati, OH

  • University of Florida College of Medicine, Jacksonville, FL

  • Children's Hospital of Orange County, Orange, CA

  • Oregon Health and Science University, Portland, OR

  • Josephs Childrens Hospital, Paterson, NJ

  • West Virginia State University, Charleston, WV

  • Hematology-Oncology Division, University of Texas Southwestern Medical Center, Dallas, TX

  • Department of Medical Oncology, NYU Langone Medical Center, New York, NY

  • Division of Nephrology, Cincinnati Childrens Hospital Medical Center, Cincinnati, OH

Locations

  • United States

Companies

  • N/A

Study Components

Therapeutic Area

  • Endocrine/metabolic Diseases (ME)

  • Gastroenterology (GU)

  • Cardiovascular (CVS)

  • Genetic Disorder

  • Blood/haematological Diseases

  • Pulmonary/Respiratory Diseases

Disease

  • Diamond-Blackfan anemia

  • Hereditary spherocytosis

  • Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema

  • Hemochromatosis

  • Gallbladder disease

  • Venous thrombosis

  • Anemia

Biomarkers

  • Cytidine deaminase

  • Ferritin

  • Mean corpuscular volume

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • Cohort

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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