Publications by authors named "Maria Helgeson"

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Surgical phenotype of patients with peritoneal mesothelioma and a germline mutation.
Yaniv Berger, Meghana Gadiraju, Ankit Dhiman, Katie Gilliam, Buerkley Opalecky, Maria Helgeson

Cancer· July 2023

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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Dianalee McKnight, Lora Bean, Izabela Karbassi, Katelynn Beattie, Thierry Bienvenu, Maria Helgeson

Hum Mutat· August 2022

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Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Alexander F Gileta, Maria L Helgeson, Jacqueline M M Leonard, Louise C Pyle, Hari P Subramanian

Am J Med Genet A· March 2021

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Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Amy M Trottier, Lawrence J Druhan, Ira L Kraft, Amanda Lance, Simone Feurstein, Maria Helgeson

Blood Adv· October 2020

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Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.
Vasiliki Panou, Meghana Gadiraju, Arthur Wolin, Caroline M Weipert, Emily Skarda, Maria Helgeson

J Clin Oncol· October 2018

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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Maria Helgeson, Jennifer Keller-Ramey, Amy Knight Johnson, Jennifer A Lee, Daniel B Magner

J Hum Genet· March 2018

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Iron Atom Exchange between Hematite and Aqueous Fe(II).
Andrew J Frierdich, Maria Helgeson, Chengshuai Liu, Chongmin Wang, Kevin M Rosso

Environ Sci Technol· July 2015

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Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, Brad Angle, Valerie Banks

Am J Med Genet A· June 2011

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