1. A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. (March 2018) Authors: Szot, Justin O.; Cuny, Hartmut; Blue, Gillian M.; Humphreys, David T.; Ip, Eddie; Harrison, Katrina; Sholler, Gary F.; Giannoulatou, Eleni; Leo, Paul; Duncan, Emma L.; Sparrow, Duncan B.; Ho, Joshua W.K.; Graham, Robert M.; Pachter, Nicholas; Chapman, Gavin; Winlaw, David S.; Dunwoodie, Sally L. 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) ↗
2. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. (22nd September 2017) Authors: Slavotinek, Anne; Risolino, Maurizio; Losa, Marta; Cho, Megan T; Monaghan, Kristin G; Schneidman-Duhovny, Dina; Parisotto, Sarah; Herkert, Johanna C; Stegmann, Alexander P A; Miller, Kathryn; Shur, Natasha; Chui, Jacqueline; Muller, Eric; DeBrosse, Suzanne; Szot, Justin O; Chapman, Gavin; Pachter... Journal: Human molecular genetics Issue: Volume 26:Number 24(2017:Dec. 15) Page Start: 4849 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Effects of hospital facilities on patient outcomes after cancer surgery: an international, prospective, observational study. Issue 7 (July 2022) Authors: Knight, Stephen R; Shaw, Catherine A; Pius, Riinu; Drake, Thomas M; Norman, Lisa; Ademuyiwa, Adesoji O; Adisa, Adewale O; Aguilera, Maria Lorena; Al-Saqqa, Sara W; Al-Slaibi, Ibrahim; Bhangu, Aneel; Biccard, Bruce M; Brocklehurst, Peter; Costas-Chavarri, Ainhoa; Chu, Kathryn; Dare, Anna; Elhadi, ... Journal: Lancet Issue: Volume 10:Issue 7(2022) Page Start: e1003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. (18th October 2019) Authors: Alankarage, Dimuthu; Szot, Justin O; Pachter, Nick; Slavotinek, Anne; Selleri, Licia; Shieh, Joseph T; Winlaw, David; Giannoulatou, Eleni; Chapman, Gavin; Dunwoodie, Sally L Journal: Human molecular genetics Issue: Volume 29:Number 7(2020) Page Start: 1068 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants. (9th December 2019) Authors: Chapman, Gavin; Moreau, Julie L M; I P, Eddie; Szot, Justin O; Iyer, Kavitha R; Shi, Hongjun; Yam, Michelle X; O'Reilly, Victoria C; Enriquez, Annabelle; Greasby, Joelene A; Alankarage, Dimuthu; Martin, Ella M M A; Hanna, Bernadette C; Edwards, Matthew; Monger, Steven; Blue, Gillian M; Winlaw, Da... Journal: Human molecular genetics Issue: Volume 29:Number 4(2020) Page Start: 566 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Gestational stress induces the unfolded protein response, resulting in heart defects. (July 2017) Authors: Moreau, Julie L.M.; Shi, Hongjun; O'Reilly, Victoria C.; Bewes, Therese R.; Yam, Michelle X.; Chapman, Bogdan E.; Grieve, Stuart M.; Stocker, Roland; Graham, Robert M.; Chapman, Gavin; Sparrow, Duncan B.; Dunwoodie, Sally L. Journal: Mechanisms of development Issue: Volume 145(2017)Supplement Page Start: S67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Global variation in postoperative mortality and complications after cancer surgery: a multicentre, prospective cohort study in 82 countries. Issue 10272 (30th January 2021) Authors: Knight, Stephen R; Shaw, Catherine A; Pius, Riinu; Drake, Thomas M; Norman, Lisa; Ademuyiwa, Adesoji O; Adisa, Adewale O; Aguilera, Maria Lorena; Al-Saqqa, Sara W; Al-Slaibi, Ibrahim; Bhangu, Aneel; Biccard, Bruce M; Brocklehurst, Peter; Costas-Chavarri, Ainhoa; Chu, Kathryn; Dare, Anna; Elhadi, ... Journal: Lancet Issue: Volume 397:Issue 10272(2021) Page Start: 387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. (4th December 2020) Authors: Martin, Ella M M A; Enriquez, Annabelle; Sparrow, Duncan B; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Duncan, Emma L; Iyer, Kavitha R; Greasby, Joelene A; Ip, Eddie; Giannoulatou, Eleni; Sheng, Delicia; Wohler, Elizabeth; Dimartino, Clémantine; Amiel, Jeanne; Capri, Yline; Lehalle... Journal: Human molecular genetics Issue: Volume 29:Number 22(2020) Page Start: 3662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Interaction of mitochondrial formylated peptides with formyl peptide receptor 1 in the pathogenesis of acute lung injury. (25th February 2016) Authors: Dorward, David; Lucas, Christopher; Doherty, Mary; Chapman, Gavin; Scholefield, Emma; Conway-Morris, Andrew; Kipari, Tiina; Robb, Calum; Felton, Jennifer; Whitfield, Philip; Haslett, Christopher; Dhaliwal, Kevin; Rossi, Adriano Journal: Lancet Issue: Volume 387(2016)Supplement 1 Page Start: S38 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. Issue 7 (5th May 2020) Authors: Al Dhaheri, Noura; Wu, Nan; Zhao, Sen; Wu, Zhihong; Blank, Robert D.; Zhang, Jianguo; Raggio, Cathy; Halanski, Matthew; Shen, Jianxiong; Noonan, Ken; Qiu, Guixing; Nemeth, Blaise; Sund, Sarah; Dunwoodie, Sally L.; Chapman, Gavin; Glurich, Ingrid; Steiner, Robert D.; Wohler, Elizabeth; Martin, Ren... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗