Publications by authors named "Elizabeth Denenberg"

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Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Haley Newman, Derek Wong, Jinhua Wu, Jeffrey Schubert, Netta Golenberg, Elizabeth H Denenberg

Hemasphere· November 2025

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Genetically Distinct Acute Megakaryoblastic Leukemia following Low Hypodiploid B-Lymphoblastic Leukemia linked by Mutation.
Jaryse C Harris, Jeffrey Schubert, Brian Lockhart, Rachel Olson, Michele E Paessler, Elizabeth H Denenberg

Pediatr Dev Pathol· May 2025

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Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly paired tumor-normal sequencing.
Haley Newman, Mary Egan Clark, Derek Wong, Jinhua Wu, Garrett M Brodeur, Elizabeth H Denenberg

Haematologica· September 2024

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Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
Minjie Luo, Derek Wong, Kristin Zelley, Jinhua Wu, Jeffery Schubert, Elizabeth H Denenberg

J Natl Cancer Inst· August 2024

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Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Fumin Lin, Kajia Cao, Fengqi Chang, Joseph H Oved, Minjie Luo, Elizabeth H Denenberg

J Mol Diagn· March 2024

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A novel tandem duplication in a child with Li-Fraumeni syndrome.
Feng Xu, Erfan Aref-Eshghi, Jinhua Wu, Jeffrey Schubert, Gerald Wertheim, Elizabeth H Denenberg

Cold Spring Harb Mol Case Stud· April 2022

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Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, Kieran B Pechter, Jorune Balciuniene, Elizabeth H Denenberg

J Mol Diagn· March 2022

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Samuel W Baker, Jill R Murrell, Addie I Nesbitt, Kieran B Pechter, Jorune Balciuniene, Elizabeth H Denenberg

J Mol Diagn· January 2019

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Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg

Genet Med· November 2018

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Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg

Genet Med· October 2018

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Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Alyssa L Ritter, Carey McDougall, Cara Skraban, Livija Medne, Emma C Bedoukian, Elizabeth H Denenberg

Am J Med Genet A· September 2018

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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg

Genet Med· March 2018

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Cara M Skraban, Constance F Wells, Preetha Markose, Megan T Cho, Addie I Nesbitt, Elizabeth H Denenberg

Am J Hum Genet· July 2017

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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Julián Nevado, Jill A Rosenfeld, Rocío Mena, María Palomares-Bralo, Elena Vallespín, Elizabeth Denenberg

Eur J Hum Genet· December 2015

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Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Addie Nesbitt, Elizabeth J Bhoj, Kristin McDonald Gibson, Zhenming Yu, Elizabeth Denenberg

Am J Med Genet A· November 2015

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Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Karen W Gripp, Dina J Zand, Laurie Demmer, Carol E Anderson, William B Dobyns, Elizabeth Denenberg

Am J Med Genet A· October 2013

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