Réka Müller

ORCID: 0000-0002-9799-2135
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About
Contact & Profiles
Research Areas
  • Pregnancy and Medication Impact
  • Maternal Mental Health During Pregnancy and Postpartum
  • Cardiac electrophysiology and arrhythmias
  • Cardiomyopathy and Myosin Studies
  • COVID-19 Impact on Reproduction
  • Maternal and Perinatal Health Interventions
  • Congenital heart defects research
  • Cancer-related molecular mechanisms research
  • RNA modifications and cancer
  • Cardiac pacing and defibrillation studies

University of South Florida
2020-2024

Increasing use of genetic tests have identified many variants uncertain significance (VUS) in genes associated with inherited arrhythmias and cardiomyopathies. Evaluation clinical practices, including medical management recommendations for VUS patients their families, is important to prevent over- or under-treatment that may result morbidity mortality. The purpose this study describe practices related results information providers give families.An anonymous online survey was distributed...

10.1161/circgen.119.002789 article EN Circulation Genomic and Precision Medicine 2020-06-11

Abstract Kenny‐Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the FAM111A gene. Both conditions characterized gracile bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles hypoparathyroidism. OCS KCS2 often referred to as ‐related syndromes a group; although presents more severe, perinatal lethal phenotype. We report novel mutation fetus poorly ossified skull,...

10.1002/ajmg.a.62182 article EN American Journal of Medical Genetics Part A 2021-03-22

Abstract Background Exposures during pregnancy are common and most pregnant patients utilize at least one medication pregnancy. The lack of reliable information on safety available to providers is a stressor obstacle decision‐making about use in Previous studies showed that exposures associated with guilt, worry, decisional conflict. Although prior research has evaluated changes patient knowledge after teratogen counseling, have not examined emotional outcomes or patients' empowerment. This...

10.1002/bdr2.2325 article EN Birth Defects Research 2024-03-01
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