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Schieffer, Kathleen M
~ 200  results:
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1

Germline PTCH1: c.361_362insAlu alteration identified by co..:

Mochizuki, Aaron Y. ; Nagaraj, Chinmayee B. ; Depoorter, Douglas..
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Clinically significant findings in a decade‐long retrospect..:

Olayiwola, Joie O. ; Marhabaie, Mohammad ; Koboldt, Daniel...
Molecular Genetics & Genomic Medicine.  12 (2024)  3 - p. , 2024
Link: https://doi.org/10.1002/..
 
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3

HGG-44. BRAINSTEM HIGH-GRADE ASTROCYTOMA WITH PILOID FEATUR..:

Balikani, Lame ; Yilmaz, Yasin ; Mattera, Emily...
Neuro-Oncology.  26 (2024)  Supplement_4 - p. 0-0 , 2024
Link: https://doi.org/10.1093/..
 
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4

Full-length isoform concatenation sequencing to resolve can..:

Wijeratne, Saranga ; Gonzalez, Maria E. Hernandez ; Roach, Kelli...
BMC Genomics.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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5

Germline susceptibility from broad genomic profiling of ped..:

Mardis, Elaine R ; Potter, Samara L ; Schieffer, Kathleen M...
Neuro-Oncology Advances.  , 2024
Link: https://doi.org/10.1093/..
 
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6

A LINE-1 mediated deletion resulting in germline retinoblas..:

Macke, Erica L ; Miller, Anthony R ; Stonerock, Eileen...
Neuro-Oncology Advances.  6 (2023)  1 - p. , 2023
Link: https://doi.org/10.1093/..
 
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7

CHEK2 Alterations in Pediatric Malignancy: A Single-Institu..:

Abdelghani, Eman ; Schieffer, Kathleen M. ; Cottrell, Catherine E....
Cancers.  15 (2023)  6 - p. 1649 , 2023
Link: https://doi.org/10.3390/..
 
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8

Fatal brainstem injury following proton radiation in a pati..:

Klawinski, Darren M. ; Cottrell, Catherine E. ; Schieffer, Kathleen M....
Pediatric Blood & Cancer.  71 (2023)  1 - p. , 2023
Link: https://doi.org/10.1002/..
 
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9

Expanding the Clinical Utility of Targeted RNA Sequencing P..:

Schieffer, Kathleen M. ; Moccia, Amanda ; Bucknor, Brianna A....
Cancers.  15 (2023)  17 - p. 4394 , 2023
Link: https://doi.org/10.3390/..
 
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10

Correspondence comprehensive characterization of a brainste..:

Becker, Aline P. ; Osorio, Diana S. ; Bell, Erica H....
Brain Pathology.  33 (2023)  5 - p. , 2023
Link: https://doi.org/10.1111/..
 
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11

Infantile metastatic ependymoma with a novel molecular prof..:

De Faria, Flavia Watusi ; Schieffer, Kathleen M. ; Pierson, Christopher R....
Genes, Chromosomes and Cancer.  62 (2022)  1 - p. 39-46 , 2022
Link: https://doi.org/10.1002/..
 
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12

Pacific Biosciences Fusion and Long Isoform Pipeline for Ca..:

Miller, Anthony R. ; Wijeratne, Saranga ; McGrath, Sean D....
The Journal of Molecular Diagnostics.  24 (2022)  12 - p. 1292-1306 , 2022
Link: https://doi.org/10.1016/..
 
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13

An unusual case of atypical teratoid/rhabdoid tumor, initia..:

Ronsley, Rebecca ; Boué, Daniel R ; Venkata, Lakshmi Prakruthi Rao...
Neuro-Oncology Advances.  4 (2022)  1 - p. , 2022
Link: https://doi.org/10.1093/..
 
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14

Detection of brain somatic variation in epilepsy‐associated..:

Bedrosian, Tracy A. ; Miller, Katherine E. ; Grischow, Olivia E....
Epilepsia.  63 (2022)  8 - p. 1981-1997 , 2022
Link: https://doi.org/10.1111/..
 
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15

Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tum..:

Miller, Katherine E. ; Wheeler, Gregory ; LaHaye, Stephanie...
Frontiers in Oncology.  12 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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