1. A primer to clinical genome sequencing. Issue 5 (October 2017) Authors: Priest, James R. 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) ↗
2. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015) Authors: Cordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Mar... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1080 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease. (March 2018) Authors: Paige, Sharon L.; Saha, Priyanka; Priest, James R. Journal: Circulation Issue: Volume 11:Number 3(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Birthweight, Type 2 Diabetes Mellitus, and Cardiovascular Disease: Addressing the Barker Hypothesis With Mendelian Randomization. (June 2018) Authors: Zanetti, Daniela; Tikkanen, Emmi; Gustafsson, Stefan; Priest, James R.; Burgess, Stephen; Ingelsson, Erik Journal: Circulation Issue: Volume 11:Number 6(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cardiac Imaging of Aortic Valve Area From 34 287 UK Biobank Participants Reveals Novel Genetic Associations and Shared Genetic Comorbidity With Multiple Disease Phenotypes. (December 2020) Authors: Córdova-Palomera, Aldo; Tcheandjieu, Catherine; Fries, Jason A.; Varma, Paroma; Chen, Vincent S.; Fiterau, Madalina; Xiao, Ke; Tejeda, Heliodoro; Keavney, Bernard D.; Cordell, Heather J.; Tanigawa, Yosuke; Venkataraman, Guhan; Rivas, Manuel A.; Ré, Christopher; Ashley, Euan; Priest, James R. Journal: Circulation Issue: Volume 13:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries. Issue 7 (27th March 2020) Authors: Liu, Xuanyu; Chen, Wen; Li, Wenke; Priest, James R.; Fu, Yuanyuan; Pang, Kunjing; Ma, Baihui; Han, Bianmei; Liu, Xuewen; Hu, Shengshou; Zhou, Zhou Journal: Circulation research Issue: Volume 126:Issue 7(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Inherited Extremes of Aortic Diameter Confer Risk for a Specific Class of Congenital Heart Disease. (December 2020) Authors: Tcheandjieu, Catherine; Zanetti, Daniela; Yu, Mengyao; Priest, James R. Journal: Circulation Issue: Volume 13:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Issue 2 (4th December 2018) Authors: Helle, Emmi; Córdova‐Palomera, Aldo; Ojala, Tiina; Saha, Priyanka; Potiny, Praneetha; Gustafsson, Stefan; Ingelsson, Erik; Bamshad, Michael; Nickerson, Deborah; Chong, Jessica X.; Ashley, Euan; Priest, James R. Journal: Genetic epidemiology Issue: Volume 43:Issue 2(2019) Page Start: 215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Maternal first trimester metabolic profile in pregnancies with transposition of the great arteries. Issue 5 (22nd December 2022) Authors: Huida, Johanna; Ojala, Tiina; Ilvesvuo, Johanna; Surcel, Heljä‐Marja; Priest, James R.; Helle, Emmi Journal: Birth defects research Issue: Volume 115:Issue 5(2023) Page Start: 517 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗