Publications by authors named "Kristen Deak"

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Blast Phase of Myeloproliferative Neoplasm Resembles Acute Myeloid Leukemia, Myelodysplasia-Related, in Clinical Presentation, Cytogenetic Pattern, and Genomic Profile, and Often Undergoes Reversion to Second Chronic Phase Status After Induction Chemotherapy.
Yue Zhao, Imran Siddiqi, Tyler J Wildes, Derald Charles, Kristen Deak

Arch Pathol Lab Med· December 2024

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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Benjamin T Cocanougher, Samuel W Liu, Ludmila Francescatto, Alexander Behura, Mariele Anneling, Kristen L Deak

HGG Adv· July 2024

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The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Joshua L Deignan, Vimla Aggarwal, Allen E Bale, Daniel B Bellissimo, Jessica K Booker, Kristen L Deak

Genet Med Open· February 2024

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Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
M Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Kristen L Deak

Am J Med Genet A· November 2023

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Chronic Lymphocytic Leukemia With Two B-Cell Populations of Discordant Light Chain Restrictions in Individual Patients: Parallel Development of Biclonal B-Cell Neoplasms or Clonal Evolution With Isotype Switch?
Yue Zhao, Imran Siddiqi, Tyler J Wildes, Jenna McCracken, Kristen Deak

Am J Clin Pathol· April 2023

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Automated next-generation profiling of genomic alterations in human cancers.
Laurel A Keefer, James R White, Derrick E Wood, Kelly M R Gerding, Kenneth C Valkenburg, Kristen Deak

Nat Commun· May 2022

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A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Ghada Hijazi, Anna Paschall, Sarah P Young, Brian Smith, Laura E Case, Kristen L Deak

Mol Genet Metab Rep· December 2021

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Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution.
Kristen L Deak, Jennifer B Jackson, Kenneth C Valkenburg, Laurel A Keefer, Kelly M Robinson Gerding

J Mol Diagn· October 2021

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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Kristen Deak

Mol Genet Genomic Med· July 2021

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Acute myeloid leukemia arising from polycythemia vera underwent reversion to chronic phase of myeloproliferative neoplasm status post chemotherapy: Biclonal myeloid neoplasms with genomic evidence of a common early hematopoietic progenitor.
Yue Zhao, Gina Sotolongo, Kristen Deak, Endi Wang

Hematol Oncol· April 2021

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An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.
Jason L Williams, Marie T McDonald, Bryce A Seifert, Kristen L Deak, Catherine W Rehder

J Pediatr Genet· March 2021

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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
Daniela Del Gaudio, Marwan Shinawi, Caroline Astbury, Marwan K Tayeh, Kristen L Deak

Genet Med· July 2020

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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.
Kelly Schoch, Queenie K-G Tan, Nicholas Stong, Kristen L Deak, Allyn McConkie-Rosell

Genet Med· July 2020

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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Shuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, Gundula Povysil, Marie T McDonald, Kristen L Deak

Hum Mutat· March 2020

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Pulmonary Granular Cell Tumors: A Study of 4 Cases Including a Malignant Phenotype.
Richard Davis, Kristen Deak, Carolyn H Glass

Am J Surg Pathol· October 2019

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Characterization of the Epidermal Growth Factor Receptor T790M Mutation in Colorectal Cancer.
Erdem Altunel, Abed Alhalim Aljamal, John Mantyh, Kristen Deak, Wayne Glover

JCO Precis Oncol· November 2018

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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Ning Liu, Kelly Schoch, Xi Luo, Loren D M Pena, Venkata Hemanjani Bhavana, Kristen L Deak

Hum Mol Genet· July 2018

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Composite lymphoma of follicular B-cell and peripheral T-cell types with distinct zone distribution in a 75-year-old male patient: a case study.
John Tanaka, Pu Su, Catherine Luedke, Rachel Jug, Lian-He Yang, Kristen Deak

Hum Pathol· June 2018

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False positives in multiplex PCR-based next-generation sequencing have unique signatures.
Chad M McCall, Stacy Mosier, Michele Thiess, Marija Debeljak, Aparna Pallavajjala, Kristen L Deak

J Mol Diagn· September 2014

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Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping.
Evelyn L Lockhart, Martha Rae Combs, Andrew Buck, Sarah Horn, Kristen Deak

Transfusion· September 2013

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Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency.
Puja K Puri, Deepti M Reddi, Michele Spencer-Manzon, Kristen Deak, Sonya U Steele

Arch Dermatol· January 2012

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The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.
Kristen L Deak, Sarah R Horn, Catherine W Rehder

Clin Lab Med· December 2011

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Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.
Kristen L Deak, Deborah G Siegel, Timothy M George, Simon Gregory, Allison Ashley-Koch

Birth Defects Res A Clin Mol Teratol· October 2008

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Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Abee L Boyles, Ashley V Billups, Kristen L Deak, Deborah G Siegel, Lorraine Mehltretter

Environ Health Perspect· October 2006

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Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.
Kristen L Deak, Margaret E Dickerson, Elwood Linney, David S Enterline, Timothy M George

Birth Defects Res A Clin Mol Teratol· November 2005

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