Angela E. Schoemaker
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View article: Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic
Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic Open
Introduction Current family screening approaches in dilated cardiomyopathy (DCM) depend on the presence or absence of a familial genetic variant, in which variant pathogenicity (i.e. benign or pathogenic) classification drives screening re…
View article: A new variant in the<i>ZCCHC8</i>gene: diverse clinical phenotypes and expression in the lung
A new variant in the<i>ZCCHC8</i>gene: diverse clinical phenotypes and expression in the lung Open
Introduction Pulmonary fibrosis is a severe disease which can be familial. A genetic cause can only be found in ∼40% of families. Searching for shared novel genetic variants may aid the discovery of new genetic causes of disease. Methods W…
View article: Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies Open
View article: Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis
Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis Open
Exonic sequencing identified a family with idiopathic pulmonary fibrosis (IPF) containing a previously unreported heterozygous mutation in POT1 p.(L259S). The family displays short telomeres and genetic anticipation. We found that POT1(L25…