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Kathleen W. Rao

Researcher at University of North Carolina at Chapel Hill

Publications -  75
Citations -  4910

Kathleen W. Rao is an academic researcher from University of North Carolina at Chapel Hill. The author has contributed to research in topics: Myeloid leukemia & Chromosome 21. The author has an hindex of 30, co-authored 75 publications receiving 4668 citations. Previous affiliations of Kathleen W. Rao include Memorial Hospital of South Bend & Mayo Clinic.

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The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

TL;DR: A high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21 is presented, demonstrating the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.
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Tyrosine Kinase Inhibitor Therapy Induces Remission in a Patient With Refractory EBF1-PDGFRB–Positive Acute Lymphoblastic Leukemia

TL;DR: A child with EBF1PDGFRB–positive ALL is presented whose disease was refractory to conventional induction chemotherapy but who responded to the addition of imatinib to remission induction therapy, highlighting the potential for TKI therapy to improve the currently poor outcome of patients with BCR-ABL1–like ALL harboring kinase-activating alterations.
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Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.

TL;DR: Initial observations and attempts at genotype/phenotype correlation lay the groundwork for identifying the genetic basis of these malformations, a common objective of gene mapping efforts and chromosome deletion studies.