Publications by authors named "Elizabeth Ulm"

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Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.
Angela M Pickart, Ann S Martin, Brianna N Gross, Lisa M Dellefave-Castillo, Leslie M McCallen, Elizabeth A Ulm

J Genet Couns· February 2025

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Compound Heterozygous Variants of Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report.
Monica S Arroyo, Christine Fuller, Elizabeth K Schorry, Elizabeth Ulm, Cuixia Tian

Neurol Genet· August 2024

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An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders.
Amanda Rosenberg, Cuixia Tian, Hua He, Elizabeth Ulm, Kathleen Collins Ruff

Am J Med Genet A· November 2023

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Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype.
Elizabeth A Ulm, Chinmayee B Nagaraj, Cuixia Tian, Teresa A Smolarek

Mol Genet Genomic Med· January 2023

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Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.
Elizabeth K Baker, Elizabeth A Ulm, Alyce Belonis, Diana S Brightman, Barbara E Hallinan

Front Genet· July 2022

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Elizabeth Ulm

Genet Med· December 2021

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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Elizabeth Ulm

Genet Med· April 2021

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Open communication of Duchenne muscular dystrophy facilitates disclosure process by parents to unaffected siblings.
Laura A G Sulmonte, Katharine Bisordi, Elizabeth Ulm, Rachel Nusbaum

J Genet Couns· February 2021

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The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2.
Fatima Amir, Carrie Atzinger, Keith Massey, John Greinwald, Lisa L Hunter, Elizabeth Ulm

J Child Neurol· March 2020

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Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory.
Emily Wakefield, Haley Keller, Hannah Mianzo, Chinmayee B Nagaraj, Sanjukta Tawde, Elizabeth Ulm

J Genet Couns· September 2018

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Genetics professionals' opinions of whole-genome sequencing in the newborn period.
Elizabeth Ulm, W Gregory Feero, Richard Dineen, Joel Charrow, Catherine Wicklund

J Genet Couns· June 2015

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Developmental functions for the Caenorhabditis elegans Sp protein SPTF-3.
Elizabeth A Ulm, Sama F Sleiman, Helen M Chamberlin

Mech Dev· March 2012

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