Catherine E Cottrell

Catherine E Cottrell

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Catherine E Cottrell

Catherine E Cottrell

Publications by authors named "Catherine E Cottrell"

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Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.

Am J Hum Genet 2019 Oct;105(4):734-746

Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, Saint Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.002DOI Listing
October 2019

GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.

J Neuropathol Exp Neurol 2019 Sep 16. Epub 2019 Sep 16.

Department of Pathology, State University of New York, Upstate Medical University, Syracuse, New York (TER, KM); Department of Pediatrics (KT); Department of Pathology (VV, JS, CMW, GJ, MS), New York University Langone Health, New York, New York; Department of Pathology & Laboratory Medicine, Nationwide Children's Hospital and The Ohio State University (CRP, CEC, DRB); Department of Neurological Surgery, Nationwide Children's Hospital (JRL); Department of Hematology, Oncology, and Bone Marrow Transplant, Nationwide Children's Hospital and The Ohio State University (MSA); Nationwide Children's Hospital, The Institute for Genomic Medicine (KMS, CEC), Columbus, Ohio; Department of Neurosurgery (ZT-S); Department of Pediatrics (MAC), State University of New York, Upstate Medical University, Syracuse, New York; Waters Center for Children's Cancer and Blood Disorders, State University of New York, Upstate Cancer Center, Syracuse, New York (MAC).

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http://dx.doi.org/10.1093/jnen/nlz093DOI Listing
September 2019

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

Eur J Med Genet 2019 Aug 10;62(8):103701. Epub 2019 Jun 10.

Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.ejmg.2019.103701DOI Listing
August 2019

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.

iScience 2019 Aug 29;18:1-10. Epub 2019 May 29.

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA; Department of Biology, Johns Hopkins University, Baltimore, MD, USA; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.05.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609817PMC
August 2019

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

Eur J Med Genet 2019 Aug 12:103735. Epub 2019 Aug 12.

The Institute for Genomic Medicine at Nationwide Children's Hospital, USA; The Ohio State University College of Medicine, Department of Pathology, USA; The Ohio State University College of Medicine, Department of Pediatrics, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103735DOI Listing
August 2019

Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling.

Hum Pathol 2019 Apr 27;86:170-181. Epub 2018 Dec 27.

Department of Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2018.12.004DOI Listing
April 2019

Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience.

J Mol Diagn 2018 11 6;20(6):812-821. Epub 2018 Jul 6.

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, Vermont; Department of Pathology and Laboratory Medicine, Larner College of Medicine at The University of Vermont, Burlington, Vermont. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.06.001DOI Listing
November 2018

Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.

Mod Pathol 2017 12 28;30(12):1739-1747. Epub 2017 Jul 28.

Department of Pathology and Immunology, Division of Anatomic and Molecular Pathology, Washington University School of Medicine, St Louis, MO, USA.

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http://www.nature.com/doifinder/10.1038/modpathol.2017.90
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http://dx.doi.org/10.1038/modpathol.2017.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716882PMC
December 2017

amplification in colorectal adenocarcinoma.

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Department of Pathology and Immunology, Washington University in St. Louis, Missouri 63130, USA.

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http://dx.doi.org/10.1101/mcs.a001495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701301PMC
November 2017

Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing.

Exp Mol Pathol 2017 02 14;102(1):156-161. Epub 2017 Jan 14.

Department of Pathology and Immunology, Washington University, St. Louis, MO, United States. Electronic address:

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http://dx.doi.org/10.1016/j.yexmp.2017.01.012DOI Listing
February 2017

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Am J Med Genet A 2016 Mar 24;170(3):583-93. Epub 2015 Nov 24.

Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37445DOI Listing
March 2016

Digynic triploidy: utility and challenges of noninvasive prenatal testing.

Clin Case Rep 2015 Jun 9;3(6):406-10. Epub 2015 Apr 9.

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine St. Louis, Missouri.

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http://dx.doi.org/10.1002/ccr3.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498852PMC
June 2015

Aggressive congenital juvenile myelomonocytic leukemia associated with somatic KRAS p.G13D mutation and concurrent germline IGF1R duplication.

Leuk Lymphoma 2015 Apr 29;56(4):1175-8. Epub 2014 Sep 29.

Division of Pediatric Hematology-Oncology, Department of Pediatrics.

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http://dx.doi.org/10.3109/10428194.2014.953152DOI Listing
April 2015

Diagnostic utility of targeted next-generation sequencing in problematic cases.

Am J Surg Pathol 2014 Apr;38(4):534-41

Department of Pathology and Immunology, Washington University in St Louis, St Louis, MO.

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http://dx.doi.org/10.1097/PAS.0000000000000161DOI Listing
April 2014

Stabilization of disease after targeted therapy in a thymic carcinoma with KIT mutation detected by clinical next-generation sequencing.

J Thorac Oncol 2014 Feb;9(2):e12-6

*Genomics and Pathology Services, Department of Pathology and Immunology, †Section of Medical Oncology, Department of Medicine, and ‡Mallinckrodt Institute of Radiology, Washington University, St. Louis, Missouri.

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http://dx.doi.org/10.1097/JTO.0b013e3182a7d22eDOI Listing
February 2014

Design of targeted, capture-based, next generation sequencing tests for precision cancer therapy.

Cancer Genet 2013 Dec 22;206(12):420-31. Epub 2013 Nov 22.

Genomics and Pathology Services, Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1016/j.cancergen.2013.11.003DOI Listing
December 2013