Publications by authors named "Sarah Verheyen"

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The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations.
Lukas Kaufmann, Christine Beichler, Jasmin Blatterer, Ingrid Janisch, Bence Csapó, Sarah Verheyen

Genes (Basel)· May 2025

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Sarah Verheyen, Ellen Heitzer, Jochen Geigl

Med Genet· December 2023

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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Annelise Y Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C Creekmore, Sarah Verheyen

Am J Hum Genet· November 2023

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Application and challenges of TCR and BCR sequencing to investigate T- and B-cell clonality in elastase-induced experimental murine abdominal aortic aneurysm.
Christin Elster, Miriam Ommer-Bläsius, Alexander Lang, Tanja Vajen, Susanne Pfeiler, Sarah Verheyen

Front Cardiovasc Med· November 2023

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Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Melissa Rieger, Sébastien Moutton, Sarah Verheyen, Katharina Steindl, Bernt Popp

Eur J Med Genet· January 2023

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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
Sarah Verheyen, Jasmin Blatterer, Michael R Speicher, Gandham SriLakshmi Bhavani, Geert-Jan Boons

J Med Genet· October 2022

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Biallelic truncating variants in cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz

J Med Genet· July 2022

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Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Dóra Nagy, Sarah Verheyen, Kristen M Wigby, Artem Borovikov, Artem Sharkov

Genes (Basel)· January 2022

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Myocardial Deformation Analysis in and Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
Viktoria Höller, Heidelis Seebacher, David Zach, Nora Schwegel, Klemens Ablasser, Sarah Verheyen, Nicolas Verheyen

Genes (Basel)· September 2021

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Norine Voisin, Rhonda E Schnur, Sofia Douzgou, Susan M Hiatt, Cecilie F Rustad, Sarah Verheyen

Am J Hum Genet· May 2021

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Childhood-onset epileptic encephalopathy due to exon 1-4 tandem duplication.
Sarah Verheyen, Michael R Speicher, Barbara Ramler, Barbara Plecko

Neurol Genet· October 2020

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The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies.
Barbara Pertl, Sophie Eder, Christina Stern, Sarah Verheyen

Ultraschall Med· December 2019

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Early motor and pre-linguistic verbal development in Prader-Willi syndrome - A case report.
Jasmin Pansy, Cornelia Barones, Berndt Urlesberger, Florian B Pokorny, Katrin D Bartl-Pokorny, Sarah Verheyen

Res Dev Disabil· May 2019

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Combined Respiratory Chain Deficiency and Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Sarah Verheyen

Oxid Med Cell Longev· May 2018

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Medication adherence among pregnant women with hypothyroidism-missed opportunities to improve reproductive health? A cross-sectional, web-based study.
Herbert Juch, Angela Lupattelli, Eivind Ystrom, Sarah Verheyen, Hedvig Nordeng

Patient Educ Couns· October 2016

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Effect of eplerenone on parathyroid hormone levels in patients with primary hyperparathyroidism: results from the EPATH randomized, placebo-controlled trial.
Andreas Tomaschitz, Nicolas Verheyen, Andreas Meinitzer, Burkert Pieske, Evgeny Belyavskiy, Sarah Verheyen

J Hypertens· July 2016

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