1. Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. (3rd March 2023) Authors: Lewis, Matthew J.; Hsieh, Alexander; Qiao, Lu; Tan, Renjie; Kazzi, Brigitte; Channing, Alexandra; Griffin, Emily L.; Jobanputra, Vaidehi; Su, Jennifer; Shahryar, Chowdhury; Kochilas, Lazaros; Gaynor, J. William; Lee, Teresa; Goldmuntz, Elizabeth; Russell, Mark; Mital, Seema; Tristani, Martin; Bru... Journal: Circulation Issue: Volume 16:Number 2(2023) Page Start: e003900 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. (August 2020) Authors: Boskovski, Marko T.; Homsy, Jason; Nathan, Meena; Sleeper, Lynn A.; Morton, Sarah; Manheimer, Kathryn B.; Tai, Angela; Gorham, Joshua; Lewis, Matthew; Swartz, Michael; Alfieris, George M.; Bacha, Emile A.; Karimi, Mohsen; Meyer, David; Nguyen, Khanh; Bernstein, Daniel; Romano-Adesman, Angela; Por... Journal: Circulation Issue: Volume 13:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. (21st February 2023) Authors: Griffin, Emily L.; Nees, Shannon N.; Morton, Sarah U.; Wynn, Julia; Patel, Nihir; Jobanputra, Vaidehi; Robinson, Scott; Kochav, Stephanie M.; Tao, Alice; Andrews, Carli; Cross, Nancy; Geva, Judith; Lanzilotta, Kristen; Ritter, Alyssa; Taillie, Eileen; Thompson, Alexandra; Meyer, Chris; Akers, Rac... Journal: Circulation Issue: Volume 16:Number 2(2023) Page Start: e003791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic Basis for Congenital Heart Disease: Revisited. Issue 21 (20th November 2018) Authors: Pierpont, Mary Ella; Brueckner, Martina; Chung, Wendy K.; Garg, Vidu; Lacro, Ronald V.; McGuire, Amy L.; Mital, Seema; Priest, James R.; Pu, William T.; Roberts, Amy; Ware, Stephanie M.; Gelb, Bruce D.; Russell, Mark W. Journal: Circulation Issue: Volume 138:Issue 21(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetics and Genomics of Congenital Heart Disease. Issue 6 (17th March 2017) Authors: Zaidi, Samir; Brueckner, Martina Journal: Circulation research Issue: Volume 120:Issue 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Issue 8 (9th February 2021) Authors: Ward, Tarsha; Tai, Warren; Morton, Sarah; Impens, Francis; Van Damme, Petra; Van Haver, Delphi; Timmerman, Evy; Venturini, Gabriela; Zhang, Kehan; Jang, Min Young; Willcox, Jon A.L.; Haghighi, Alireza; Gelb, Bruce D.; Chung, Wendy K.; Goldmuntz, Elizabeth; Porter, George A.; Lifton, Richard P.; B... Journal: Circulation research Issue: Volume 128:Issue 8(2021) Page Start: 1156 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Issue 6 (28th April 2022) Authors: Dong, Weilai; Kaymakcalan, Hande; Jin, Sheng Chih; Diab, Nicholas S.; Tanıdır, Cansaran; Yalcin, Ali Seyfi Yalim; Ercan‐Sencicek, A. Gulhan; Mane, Shrikant; Gunel, Murat; Lifton, Richard P.; Bilguvar, Kaya; Brueckner, Martina Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 6(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Issue 6 (22nd March 2018) Authors: Manheimer, Kathryn B.; Patel, Nihir; Richter, Felix; Gorham, Joshua; Tai, Angela C.; Homsy, Jason; Boskovski, Marko T.; Parfenov, Michael; Goldmuntz, Elizabeth; Chung, Wendy K.; Brueckner, Martina; Tristani‐Firouzi, Martin; Srivastava, Deepak; Seidman, Jonathan G.; Seidman, Christine E.; Gelb, Br... Journal: Human mutation Issue: Volume 39:Issue 6(2018) Page Start: 870 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician. Issue 5 (October 2017) Authors: Simmons, M. Abigail; Brueckner, Martina Journal: Current opinion in pediatrics Issue: Volume 29:Issue 5(2017:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗