1. 121 Re-evaluating the genetic contribution of monogenic dilated cardiomyopathy. (May 2019) Authors: Mazzarotto, Francesco; Tayal, Paz; Buchan, Rachel; Midwinter, William; Wilk, Alicja; Whiffin, Nicola; Govind, Risha; Mazaika, Erica; De Marvao, Antonio; Felkin, Leanne; Dawes, Timothy; Ahmad, Mian; Edwards, Elizabeth; Ing, Alexander; Thomson, Kate; Chan, Laura; Sim, David; Baksi, John; Pantazis, ... Journal: Heart Issue: Volume 105(2019)Supplement 6 Page Start: A100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Issue 9 (24th June 2020) Authors: Hawley, Megan H.; Almontashiri, Naif; Biesecker, Leslie G.; Berger, Natalie; Chung, Wendy K.; Garcia, John; Grebe, Theresa A.; Kelly, Melissa A.; Lebo, Matthew S.; Macaya, Daniela; Mei, Hui; Platt, Julia; Richard, Gabi; Ryan, Ashley; Thomson, Kate L.; Vatta, Matteo; Walsh, Roddy; Ware, James S.; ... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1577 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation. Issue 11 (11th October 2018) Authors: Rivera‐Muñoz, Edgar A.; Milko, Laura V.; Harrison, Steven M.; Azzariti, Danielle R.; Kurtz, C. Lisa; Lee, Kristy; Mester, Jessica L.; Weaver, Meredith A.; Currey, Erin; Craigen, William; Eng, Charis; Funke, Birgit; Hegde, Madhuri; Hershberger, Ray E.; Mao, Rong; Steiner, Robert D.; Vincent, Lisa ... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations. Issue 3 (27th December 2018) Authors: Hershkovitz, Tova; Kurolap, Alina; Ruhrman‐Shahar, Noa; Monakier, Daniel; DeChene, Elizabeth T.; Peretz‐Amit, Gabriela; Funke, Birgit; Zucker, Nili; Hirsch, Rafael; Tan, Wen‐Hann; Baris Feldman, Hagit Journal: American journal of medical genetics Issue: Volume 179:Issue 3(2019) Page Start: 365 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Elective genomic testing: Practice resource of the National Society of Genetic Counselors. Issue 2 (4th January 2023) Authors: Blout Zawatsky, Carrie L.; Bick, David; Bier, Louise; Funke, Birgit; Lebo, Matthew; Lewis, Katie L.; Orlova, Ekaterina; Qian, Emily; Ryan, Lauren; Schwartz, Marci L. B.; Soper, Emily R. Journal: Journal of genetic counseling Issue: Volume 32:Issue 2(2023) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pathogenicity of Hypertrophic Cardiomyopathy Variants: A Path Forward Together. (October 2017) Authors: Ingles, Jodie; Burns, Charlotte; Funke, Birgit 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) ↗
7. Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. Issue 5 (4th February 2020) Authors: Mazzarotto, Francesco; Tayal, Upasana; Buchan, Rachel J.; Midwinter, William; Wilk, Alicja; Whiffin, Nicola; Govind, Risha; Mazaika, Erica; de Marvao, Antonio; Dawes, Timothy J.W.; Felkin, Leanne E.; Ahmad, Mian; Theotokis, Pantazis I.; Edwards, Elizabeth; Ing, Alexander Y.; Thomson, Kate L.; Cha... Journal: Circulation Issue: Volume 141:Issue 5(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Targeted Droplet‐Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. Issue 1 (29th October 2015) Authors: Tayoun, Ahmad N. Abou; Mason‐Suares, Heather; Frisella, Ashley L.; Bowser, Mark; Duffy, Elizabeth; Mahanta, Lisa; Funke, Birgit; Rehm, Heidi L.; Amr, Sami S. Journal: Human mutation Issue: Volume 37:Issue 1(2016) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Use of "Coldspot" Regions in Variant Classification. (16th August 2020) Authors: Harrison, Steven M; Funke, Birgit Journal: Clinical chemistry Issue: Volume 66:Number 10(2020) Page Start: 1263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗