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Infantile NTRK-associated Mesenchymal Tumors

Pediatric and developmental pathology, 2018-01, Vol.21 (1), p.68-78

2018

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A Malignant Mimicker: Features of Kikuchi-Fujimoto Disease in the Pediatric Population

Pediatric and developmental pathology, 2022-09, Vol.25 (5), p.538-547

2022

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How Many Tests Does It Take to Diagnose a Triple-Hit B-Lymphoblastic Lymphoma? (Hint, It’s A Lot)

Pediatric and developmental pathology, 2024-03, Vol.27 (2), p.193-197

2024

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Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants

Archives of pathology & laboratory medicine (1976), 2024-07, Vol.148 (7), p.775-783

2024

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Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

Genes chromosomes & cancer, 2022-12, Vol.61 (12), p.710-719

2022

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A mouse model for cyclin E-dependent genetic instability and tumorigenesis

Cancer cell, 2005-07, Vol.8 (1), p.35-47

2005

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Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data

Archives of pathology & laboratory medicine (1976), 2022-04, Vol.146 (4), p.451-461

2022

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Discordant sex between fetal screening and postnatal phenotype requires evaluation

Journal of perinatology, 2019-01, Vol.39 (1), p.28-33

2019

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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Genetics in medicine, 2010-10, Vol.12 (10), p.641-647

2010

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Boundaries between Chromosomal Domains of X Inactivation and Escape Bind CTCF and Lack CpG Methylation during Early Development

Developmental cell, 2005, Vol.8 (1), p.31-42

2005

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Evaluation of the Utility of Bone Marrow Morphology and Ancillary Studies in Pediatric Patients Under Surveillance for Myelodysplastic Syndrome

American journal of clinical pathology, 2018-04, Vol.149 (6), p.499-513

2018

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The Smo/Smo Model : Hedgehog-Induced Medulloblastoma with 90% Incidence and Leptomeningeal Spread

Cancer research (Chicago, Ill.), 2008-03, Vol.68 (6), p.1768-1776

2008

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Is intrachromosomal amplification of chromosome 21 (iAMP21) always intrachromosomal?

Cancer genetics, 2017-12, Vol.218-219, p.10-14

2017

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

Human molecular genetics, 2011-10, Vol.20 (19), p.3769-3778

2011

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TGF-β Receptor Inactivation and Mutant Kras Induce Intestinal Neoplasms in Mice via a β-Catenin-Independent Pathway

Gastroenterology (New York, N.Y. 1943), 2009-05, Vol.136 (5), p.1680-1688.e7

2009

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Fluorescence In Situ Hybridization

Clinics in laboratory medicine, 2011-12, Vol.31 (4), p.525-542

Tsuchiya, Karen D., MD

2011

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Comparative Analysis of PCR-Based Biomarker Assay Methods for Colorectal Polyp Detection from Fecal DNA

Clinical chemistry (Baltimore, Md.), 2009-08, Vol.55 (8), p.1559-1563

2009

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Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2301-2308

2018

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ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization

Genetics in medicine, 2019-10, Vol.21 (10), p.2405-2405

2019

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Comparative Performance of Breast Cancer Human Epidermal Growth Factor Receptor 2 Fluorescence In Situ Hybridization and Brightfield In Situ Hybridization on College of American Pathologists Proficiency Tests

Archives of pathology & laboratory medicine (1976), 2018-10, Vol.142 (10), p.1254-1259

2018

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Activation of the Chromosome 19q MicroRNA Cluster in Sporadic and Androgenetic-Biparental Mosaicism–Associated Hepatic Mesenchymal Hamartoma

Pediatric and developmental pathology, 2014-03, Vol.17 (2), p.75-84

2014

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Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

Genetics in medicine, 2011-07, Vol.13 (7), p.667-675

2011

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Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families

Genetics in medicine, 2015-05, Vol.17 (5), p.400-404

2015

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Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor

Pediatrics (Evanston), 2015-03, Vol.135 (3), p.e736-e739

2015

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Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p)

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2827-2831

2010

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Infantile NTRK-associated Mesenchymal Tumors

A Malignant Mimicker: Features of Kikuchi-Fujimoto Disease in the Pediatric Population

How Many Tests Does It Take to Diagnose a Triple-Hit B-Lymphoblastic Lymphoma? (Hint, It’s A Lot)

Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants

Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

A mouse model for cyclin E-dependent genetic instability and tumorigenesis

Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data

Discordant sex between fetal screening and postnatal phenotype requires evaluation

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Boundaries between Chromosomal Domains of X Inactivation and Escape Bind CTCF and Lack CpG Methylation during Early Development

Evaluation of the Utility of Bone Marrow Morphology and Ancillary Studies in Pediatric Patients Under Surveillance for Myelodysplastic Syndrome

The Smo/Smo Model : Hedgehog-Induced Medulloblastoma with 90% Incidence and Leptomeningeal Spread

Is intrachromosomal amplification of chromosome 21 (iAMP21) always intrachromosomal?

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

TGF-β Receptor Inactivation and Mutant Kras Induce Intestinal Neoplasms in Mice via a β-Catenin-Independent Pathway

Fluorescence In Situ Hybridization

Comparative Analysis of PCR-Based Biomarker Assay Methods for Colorectal Polyp Detection from Fecal DNA

Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients

ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization

Comparative Performance of Breast Cancer Human Epidermal Growth Factor Receptor 2 Fluorescence In Situ Hybridization and Brightfield In Situ Hybridization on College of American Pathologists Proficiency Tests

Activation of the Chromosome 19q MicroRNA Cluster in Sporadic and Androgenetic-Biparental Mosaicism–Associated Hepatic Mesenchymal Hamartoma

Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families

Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor

Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p)

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