Publications by authors named "Emily DeBoy"

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Maternal cobalamin deficiency causing infantile seizures and developmental regression.
Nadav Weinstock, Jacqueline Wood, Emily DeBoy, Alexander Testino, Carl Stafstrom

BMJ Case Rep· November 2025

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Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype.
Emily A DeBoy, Anna M Nicosia, Sandya Liyanarachchi, Sheila S Iyer, Manisha H Shah

Am J Hum Genet· June 2024

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Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
Emily A DeBoy, Michael G Tassia, Kristen E Schratz, Stephanie M Yan, Zoe L Cosner

N Engl J Med· June 2023

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Ovarian Failure Preceding Head and Neck Squamous Cell Carcinoma Identifies an Adult-Onset Cancer-Prone Syndrome Caused by Mutations.
Paz J Vellanki, Emily A DeBoy, M Malek Bawadkji, Lynn Schuchter, Lisa Rooper

JCO Precis Oncol· April 2022

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Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.
Kristen E Schratz, Valeriya Gaysinskaya, Zoe L Cosner, Emily A DeBoy, Zhimin Xiang

J Clin Invest· September 2021

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Identification of novel RNA isoforms of LMNA.
Emily DeBoy, Madaiah Puttaraju, Parthav Jailwala, Manjula Kasoji, Maggie Cam

Nucleus· September 2017

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