Publications by authors named "Aaron Stence"

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Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature.
Jacob A Ginter, Sarah Beaudry, Natalya Guseva, Jaime Nagy, Aaron A Stence

Am J Med Genet A· May 2025

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Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples.
Ulrich Broeckel, M Anwar Iqbal, Brynn Levy, Nikhil Sahajpal, Peter L Nagy, Aaron Stence

J Mol Diagn· March 2024

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A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.
Anthony Piscopo, Taylor Warner, Jaime Nagy, Vidya Nagrale, Aaron Stence

Am J Med Genet A· February 2024

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Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.
M Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil S Sahajpal, Aaron Stence

J Mol Diagn· March 2023

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DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.
Kaoru Inoue, Hamed Bostan, MaKenna R Browne, Owen F Bevis, Carl D Bortner, Aaron A Stence

Sci Adv· February 2023

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Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.
Aaron A Stence, Jon G Thomason, Jonathan A Pruessner, Ramakrishna R Sompallae, Anthony N Snow

J Mol Diagn· November 2021

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TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Austin A Larson, Peter R Baker, Miroslav P Milev, Craig A Press, Ronald J Sokol, Aaron A Stence

Skelet Muscle· May 2018

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Simultaneous detection of single-nucleotide variant, deletion/insertion, and fusion in lung and thyroid carcinoma using cytology specimen and an RNA-based next-generation sequencing assay.
Natalya V Guseva, Omar Jaber, Aaron A Stence, Krishnaveni Sompallae, Amani Bashir

Cancer Cytopathol· March 2018

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The NAB2-STAT6 gene fusion in solitary fibrous tumor can be reliably detected by anchored multiplexed PCR for targeted next-generation sequencing.
Natalya V Guseva, Munir R Tanas, Aaron A Stence, Ramakrishna Sompallae, Jenna C Schade

Cancer Genet· May 2017

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Anchored multiplex PCR for targeted next-generation sequencing reveals recurrent and novel USP6 fusions and upregulation of USP6 expression in aneurysmal bone cyst.
Natalya V Guseva, Omar Jaber, Munir R Tanas, Aaron A Stence, Ramakrishna Sompallae

Genes Chromosomes Cancer· April 2017

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Single thyroid tumour showing multiple differentiated morphological patterns and intramorphological molecular genetic heterogeneity.
Heather K Schopper, Aaron Stence, Deqin Ma, Nitin A Pagedar, Robert A Robinson

J Clin Pathol· February 2017

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Simultaneously Detection of 50 Mutations at 20 Sites in the BRAF and RAS Genes by Multiplexed Single-Nucleotide Primer Extension Assay Using Fine-Needle Aspirates of Thyroid Nodules.
Aaron A Stence, Michael P Gailey, Robert A Robinson, Chris S Jensen, Deqin Ma

Yale J Biol Med· December 2015

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Multiplatform comparison of molecular oncology tests performed on cytology specimens and formalin-fixed, paraffin-embedded tissue.
Michael P Gailey, Aaron A Stence, Chris S Jensen, Deqin Ma

Cancer Cytopathol· January 2015

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A simple and cost-effective method of DNA extraction from small formalin-fixed paraffin-embedded tissue for molecular oncologic testing.
Anthony N Snow, Aaron A Stence, Jonathan A Pruessner, Aaron D Bossler, Deqin Ma

BMC Clin Pathol· July 2014

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Identification of KIT activating mutations in paediatric solitary mastocytoma.
Deqin Ma, Aaron A Stence, Aaron B Bossler, Jason R Hackman, Andrew M Bellizzi

Histopathology· January 2014

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Limb-girdle muscular dystrophy in the United States.
Steven A Moore, Christopher J Shilling, Steven Westra, Cheryl Wall, Matthew P Wicklund, Aaron Stence

J Neuropathol Exp Neurol· October 2006

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