1. A clinical report of Chediak–Higashi syndrome in infancy with a novel genotype from the Indian subcontinent. (24th October 2015) Authors: Singh, Ankur; Bryan, Melanie M.; Roney, Joseph C.; Cullinane, Andrew R.; Gahl, William A.; Khurana, Nita; Kapoor, Seema Journal: International journal of dermatology Issue: Volume 55:Number 3(2016:Mar.) Page Start: 317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. Issue 3 (4th January 2017) Authors: Vilboux, Thierry; Malicdan, May Christine V.; Roney, Joseph C.; Cullinane, Andrew R.; Stephen, Joshi; Yildirimli, Deniz; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C.; Steinbach, Peter J.; Gahl, William A.; Gunay‐Aygun, Meral Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 661 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnosis of Chediak Higashi disease in a 67‐year old woman. Issue 12 (29th September 2020) Authors: Yarnell, David S.; Roney, Joseph C.; Teixeira, Cláudia; Freitas, Maria I.; Cipriano, Ana; Leuschner, Pedro; Krzewski, Konrad; Stephen, Joshi; Dorward, Heidi; Gahl, William A.; Gochuico, Bernadette R.; Toro, Camilo; Malicdan, May C.; Introne, Wendy J. Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 3007 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Lipid-mediated impairment of axonal lysosome transport contributing to autophagic stress. Issue 7 (3rd July 2021) Authors: Roney, Joseph C.; Li, Sunan; Farfel-Becker, Tamar; Huang, Ning; Sun, Tao; Xie, Yuxiang; Cheng, Xiu-Tang; Lin, Mei-Yao; Platt, Frances M.; Sheng, Zu-Hang Journal: Autophagy Issue: Volume 17:Issue 7(2021) Page Start: 1796 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The secret life of degradative lysosomes in axons: delivery from the soma, enzymatic activity, and local autophagic clearance. Issue 1 (2nd January 2020) Authors: Farfel-Becker, Tamar; Roney, Joseph C.; Cheng, Xiu-Tang; Li, Sunan; Cuddy, Sean R.; Sheng, Zu-Hang Journal: Autophagy Issue: Volume 16:Issue 1(2020) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗