1. "Blepharophimosis‐plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis. (29th April 2021) Authors: Landau Prat, Daphna; Nguyen, Brian J.; Strong, Alanna; Katowitz, William R.; Katowitz, James A. Journal: Clinical & experimental ophthalmology Issue: Volume 49:Number 5(2021) Page Start: 448 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. (Pro)renin Receptor and LDL Clearance: An Old Player Joins A New Game. Issue 2 (22nd January 2016) Authors: Strong, Alanna; Musunuru, Kiran Journal: Circulation research Issue: Volume 118:Issue 2(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. Issue 5 (7th February 2023) Authors: Strong, Alanna; Rao, Soumya; von Hardenberg, Sandra; Li, Dong; Cox, Liza L.; Lee, Paul C.; Zhang, Li Q.; Awotoye, Waheed; Diamond, Tamir; Gold, Jessica; Gooch, Catherine; Gowans, Lord Jephthah Joojo; Hakonarson, Hakon; Hing, Anne; Loomes, Kathleen; Martin, Nicole; Marazita, Mary L.; Mononen, Tarj... Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. Issue 7 (7th May 2021) Authors: Strong, Alanna; O'Grady, Gina; Shih, Evelyn; Bishop, Jonathan R.; Loomes, Kathleen; Diamond, Tamir; Hartung, Erum A.; Wong, William; Cuddapah, Sanmati; Cahill, Anne Marie; Hou, Cuiping; Slater, Diana; Vaccaro, Courtney; Watson, Deborah; Li, Dong; Hakonarson, Hakon Journal: American journal of medical genetics Issue: Volume 185:Issue 7(2021) Page Start: 2168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel heterotaxy gene: Expansion of the phenotype of TTC21B‐spectrum disease. Issue 4 (5th February 2021) Authors: Strong, Alanna; Li, Dong; Mentch, Frank; Hakonarson, Hakon Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response. Issue 2 (15th October 2021) Authors: Strong, Alanna; March, Michael E.; Cardinale, Christopher J.; Kim, Sophia E.; Merves, Jamie; Whitworth, Hilary; Raffini, Leslie; Larosa, Christopher; Copelovitch, Lawrence; Hou, Cuiping; Slater, Diana; Vaccaro, Courtney; Watson, Deborah; Zackai, Elaine H.; Billheimer, Jeffrey; Hakonarson, Hakon Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 463 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome. Issue 2 (April 2020) Authors: Strong, Alanna; McDougall, Carey; Zackai, Elaine Journal: Clinical dysmorphology Issue: Volume 29:Issue 2(2020:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Alpha‐1‐Antitrypsin Deficiency. Issue 3 (27th March 2022) Authors: Suri, Anandini; Patel, Dhiren; Teckman, Jeffery Editors: Strong, Alanna Journal: Clinical liver disease Issue: Volume 19:Issue 3(2022) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Autophagy Is Required for Sortilin-Mediated Degradation of Apolipoprotein B100. Issue 4 (16th February 2018) Authors: Amengual, Jaume; Guo, Liang; Strong, Alanna; Madrigal-Matute, Julio; Wang, Haizhen; Kaushik, Susmita; Brodsky, Jeffrey L.; Rader, Daniel J.; Cuervo, Ana Maria; Fisher, Edward A. Journal: Circulation research Issue: Volume 122:Issue 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Ciliopathies: Coloring outside of the lines. Issue 3 (25th December 2020) Authors: Strong, Alanna; Li, Dong; Mentch, Frank; Bedoukian, Emma; Hartung, Erum A.; Meyers, Kevin; Skraban, Cara; Wen, Jessica; Medne, Livija; Glessner, Joseph; Watson, Deborah; Krantz, Ian; Hakonarson, Hakon Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 687 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗