Publications by authors named "Elizabeth Fanning"

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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 A Fanning

Hemasphere· November 2025

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A multicenter analysis of individuals with a 47,XXY/46,XX karyotype.
Tiffany Guess, Ferrin C Wheeler, Ashwini Yenamandra, Samantha L P Schilit, Hannah S Anderson, Elizabeth Fanning

Genet Med· October 2024

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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 A Fanning

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 A Fanning

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 A Fanning

J Mol Diagn· March 2024

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Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
Nobuko Yamamoto, Jorune Balciuniene, Tiffiney Hartman, Maria Alejandra Diaz-Miranda, Emma Bedoukian, Elizabeth A Fanning

J Pediatr· November 2023

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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 A Fanning

Cold Spring Harb Mol Case Stud· April 2022

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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
Alice Costantini, Helena Valta, Nissan Vida Baratang, Patrick Yap, Débora R Bertola, Elizabeth A Fanning

Bone· April 2019

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A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Rojeen Niazi, Elizabeth A Fanning, Christel Depienne, Mahdi Sarmady, Ahmad N Abou Tayoun

Hum Mutat· March 2019

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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, Elizabeth A Fanning

Genome Med· March 2019

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, Elizabeth A Fanning

Genome Med· February 2019

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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
P Y Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Elizabeth Fanning

Eur J Hum Genet· September 2018

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Most cited: number 1. A longitudinal study of tooth formation and root resorption.
Elizabeth A Fanning

N Z Dent J· June 2008

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