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Kathleen Schieffer

20PUBLICATIONS
29CO-AUTHORS
Haematological tumoursEpigenetics (incl. genome methylation and epigenomics)Foetal development and medicineGene mappingInfant and child health
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Journal

Publications (20)

Sort by Publication Date:
|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

Pageof 4

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

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

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