Publications by authors named "Amy Siemon"

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Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Joie O Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon

Mol Genet Genomic Med· March 2024

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Phenotypic Spectrum in a Family Sharing a Heterozygous Variant.
Kristen Arredondo, Cortlandt Myers, Emily Hansen-Kiss, Mariam T Mathew, Vijayakumar Jayaraman, Amy Siemon

J Child Neurol· May 2022

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A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
Laiken Peterson, Amy Siemon, Leah Olewiler, Kim L McBride, Dawn C Allain

J Genet Couns· February 2022

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Inherited and de novo variants extend the etiology of -associated neurodevelopmental disorder.
Jesse M Hunter, Lauren J Massingham, Kandamurugu Manickam, Dennis Bartholomew, Rachel K Williamson, Amy Siemon

Cold Spring Harb Mol Case Stud· February 2022

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Novel truncating variant in associated with cerebellar hypoplasia and velopharyngeal dysfunction.
Nicolas J Abreu, Amy E Siemon, Adriane L Baylis, Richard E Kirschner, Ruthann B Pfau

Clin Case Rep· February 2022

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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Amy Siemon

NPJ Genom Med· December 2021

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Pathogenic variants in , a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Dong Li, Qin Wang, Naihua N Gong, Alina Kurolap, Hagit Baris Feldman, Amy Siemon

Sci Adv· May 2021

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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Dawn S Peck, Jean M Lacey, Amy L White, Gisele Pino, April L Studinski, Amy Siemon

Int J Neonatal Screen· March 2020

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