1. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017) Authors: Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, So... Journal: Human molecular genetics Issue: Volume 26:Number 24(2017:Dec. 15) Page Start: 4937 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy. Issue 3 (19th December 2022) Authors: Chong, Shuk Ching; Cao, Ye; Fung, Eva L. W.; Kleppe, Soledad; Gripp, Karen W.; Hertecant, Jozef; El‐Hattab, Ayman W.; Suleiman, Jehan; Clark, Gary; von Allmen, Gretchen; Rodziyevska, Olga; Lewis, Richard A.; Rosenfeld, Jill A.; Dong, Jie; Wang, Xia; Miller, Marcus J.; Bi, Weimin; Liu, Pengfei; Sc... Journal: American journal of medical genetics Issue: Volume 191:Issue 3(2023) Page Start: 776 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Neonatal epidermolysis bullosa: lessons to learn about genetic counseling. (2nd January 2021) Authors: Chong, Shuk Ching; Hon, Kam Lun; Yuen, Liz Y. P.; Choi, Paul Cheung Lung; Ng, W. G. Gigi; Chiu, Tor W. Journal: Journal of dermatological treatment Issue: Volume 32:Number 1(2021) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5. (17th April 2020) Authors: Chong, Shuk Ching; Hon, Kam Lun; Scaglia, Fernando; Chow, Chung Mo; Fu, Yu Ming; Chiu, Tor Wo; Leung, Alexander K. C. Other Names: Lee Yann-Jinn Academic Editor. Journal: Case reports in pediatrics Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗