1. Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team‐based Variant Classification. Issue 4 (12th December 2017) Authors: Reuter, Chloe; Grove, Megan E.; Orland, Kate; Spoonamore, Katherine; Caleshu, Colleen Journal: Journal of genetic counseling Issue: Volume 27:Issue 4(2018) Page Start: 751 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical Characteristics of the GLA N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease. (October 2017) Authors: Reuter, Chloe; Platt, Julia Journal: Circulation Issue: Volume 10:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants. Issue 20 (16th November 2021) Authors: Gigli, Marta; Stolfo, Davide; Graw, Sharon L.; Merlo, Marco; Gregorio, Caterina; Nee Chen, Suet; Dal Ferro, Matteo; PaldinoMD, Alessia; De Angelis, Giulia; Brun, Francesca; Jirikowic, Jean; Salcedo, Ernesto E.; Turja, Sylvia; Fatkin, Diane; Johnson, Renee; van Tintelen, J. Peter; Te Riele, Anneli... Journal: Circulation Issue: Volume 144:Issue 20(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. (March 2019) Authors: Parikh, Victoria N.; Caleshu, Colleen; Reuter, Chloe; Lazzeroni, Laura C.; Ingles, Jodie; Garcia, John; McCaleb, Kristen; Adesiyun, Tolulope; Sedaghat-Hamedani, Farbod; Kumar, Saurabh; Graw, Sharon; Gigli, Marta; Stolfo, Davide; Dal Ferro, Matteo; Ing, Alexander Y.; Nussbaum, Robert; Funke, Birgi... Journal: Circulation Issue: Volume 12:Number 3(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. (29th December 2022) Authors: Hoorntje, Edgar T.; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N.; te Meerman, Gerard J.; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D.; Barge-Schaapveld, Daniela Q.C.M.; van den Berg, Maarten P.; Bootsma, Marianne; Bosman, Laurens P.; Correnti, Gemma; Duflou, Johan; Ep... Journal: Circulation Issue: Volume 16:Number 1(2023) Page Start: e003672 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗