Kathleen Schieffer
20PUBLICATIONS
29CO-AUTHORS
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Publications (20)
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|Dec 11, 2025
Spinal and Leptomeningeal Infantile Glioma With Raf1 Fusion: Diagnostic Challenges for a Potentially Novel Tumour Type.Arnault Tauziède-Espariat, Alice Métais, Kathleen Schieffer
|Jun 12, 2024
Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.Aaron Y Mochizuki, Chinmayee B Nagaraj, Douglas Depoorter
|Jan 24, 2024
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.Joie O Olayiwola, Mohammad Marhabaie, Daniel Koboldt
|Jan 12, 2024
A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.Erica L Macke, Anthony R Miller, Eileen Stonerock
|Oct 25, 2023
Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213.Darren M Klawinski, Catherine E Cottrell, Kathleen M Schieffer
|Sep 09, 2023
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.Kathleen M Schieffer, Amanda Moccia, Brianna A Bucknor
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Frequent Collaborators
5 joint publications
Elaine R Mardis
4 joint publications
Selene C Koo
3 joint publications
Catherine E Cottrell
2 joint publications
Peter White
2 joint publications
Suzanna J Logan
2 joint publications
Sean McGrath
1 joint publications
Mohammad Marhabaie
1 joint publications
Kristen Leraas
1 joint publications
Jianmei W Leavenworth
1 joint publications
Inmaculada B Aban
