Sarah Koon
Mayo Clinic(US)Mayo Clinic in Arizona(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetic and Kidney Cyst Diseases, Renal and related cancers, Cancer Genomics and Diagnostics, Epigenetics and DNA Methylation
Most-Cited Works
- → ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3(2013)199 cited
- → DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling(2014)119 cited
- → Reduced Ciliary Polycystin-2 in Induced Pluripotent Stem Cells from Polycystic Kidney Disease Patients with PKD1 Mutations(2013)116 cited
- → Cryptic ETV6–PDGFRB fusion in a highly complex rearrangement of chromosomes 1, 5, and 12 due to a chromothripsis-like event in a myelodysplastic syndrome/myeloproliferative neoplasm(2018)10 cited
- → Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia(2019)10 cited
- → 12. Analysis of the clinical utility of mate pair sequencing to further characterize congenital chromosome abnormalities(2021)
- → 24. Clinical utility of mate pair sequencing as a reflex test in B-lymphoblastic leukemia/lymphoma(2021)
- → 12. Mate pair sequencing: Unveiling underappreciated complexity and providing clarity to the previously unanswered questions of cytogenetics(2018)
- → Identification of a novel t(X;10)(p11.3;q23.1) translocation disrupting MAOB in a patient with severe developmental delay using mate pair sequencing(2021)
- → The Effects of Gender on Relational Aggression: A Meta-Analysis(2006)