Rupa Udani

Medical College of Wisconsin — United States

Medicine · Health Sciences

9h-index1.2kcitations29works28.02yr avg
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Research Topics

Platelet Disorders and Treatments(7), Blood groups and transfusion(7), Protist diversity and phylogeny(4), Bacteriophages and microbial interactions(3), Genomics and Rare Diseases(3)

Publications28 total

Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions
BMC Infectious Diseases·2024· 2 citedOpen Access
ACE2 expression in PBMC and plasma markers of vasculopathy and fibrosis during early COVID – implications for post-COVID conditions
Research Square (Research Square)·2023Open Access
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel
Molecular Genetics and Metabolism·2023· 6 citedOpen Access
Constitutional mosaicism for a pathogenic variant in <i>MEN1</i> associated with multiple endocrine neoplasia type <scp>I</scp> syndrome
Clinical Genetics·2023· 1 citedOpen Access
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism
Journal of Genetics·2023· 3 cited
Implementation of an Active Screening Program for SARS-CoV2 - Experience at an Academic Medical Center.
PubMed·2022· 1 cited
Long-term retinal imaging of a case of suspected congenital rubella infection
American Journal of Ophthalmology Case Reports·2021· 5 citedOpen Access
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases
Human Mutation·2019· 11 citedOpen Access
4. Non-invasive prenatal screening: Understanding the underlying mechanisms for discordance
Cancer Genetics·2018
Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD
Research and Practice in Thrombosis and Haemostasis·2018· 11 citedOpen Access
Acquired RhD mosaicism identifies fibrotic transformation of thrombopoietin receptor‐mutated essential thrombocythemia
Transfusion·2017· 5 citedOpen Access
Identification of Copy Number Variants in Type 1 and Type 3 VWD by aCGH in the Zimmerman Program
Blood·2016· 1 cited
Laboratory-Developed MLPA® Probes Enable CNV Detection in the CFHR4 Gene to Aid aHUS Genetic Evaluation
Blood·2016
Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States
Blood·2016· 127 citedOpen Access
Genetic Evaluation in aHUS: Characterization of a Variant of Unknown Significance in CFHR3
Blood·2015
Domain Distribution of Type 1 VWD Sequence Variants and Impact on Clinical and Laboratory Phenotype in the Zimmerman Program
Blood·2015
Assessment of Erythroid Chimerism in Sickle Cell Patients Undergoing HSCT By Digital Droplet PCR
Blood·2014· 1 cited
Phenotypic Variability in Carriers of Von Willebrand Factor Truncating Sequence Variants in the Zimmerman Program
Blood·2014
Spectrum of Type 2 Von Willebrand Disease in the Zimmerman Program
Blood·2014· 6 cited
The Management of Bleeding Risk in Von Willebrand Disease: Should Blood Group O Make a Difference?
Blood·2014· 2 cited
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Frequent Co-authors

Kenneth D. Friedman(9), Daniel B. Bellissimo(9), Veronica H. Flood(7), Pamela A. Christopherson(7), Sandra L. Haberichter(7), Robert R. Montgomery(7), Joan Cox Gill(6), Honey V. Reddi(6), Kala F. Schilter(6), Kathleen M. Karrer(3), William R. Jacobs(2), Raúl G. Barletta(2), Barry R. Bloom(2), Lihui Yin(2), The Zimmerman Program Investigators(2), Rebecca C. Tyler(2), Mary Parlow(2), Gulrayz Ahmed(2), Yasir Abdelgadir(2), Amro Abdelghani(2)