1. A study of gene mutations and how they relate to the different types of ichthyosis. (28th February 2020) Authors: Simpson, J.K.; Martinez‐Queipo, M.; Onoufriadis, A.; Tso, S.; Glass, E.; Liu, L.; Higashino, T.; Scott, W.; Tierney, C.; Simpson, M.A.; Desomchoke, R.; Youssefian, L.; SaeIdian, A.H.; Vahidnezhad, H.; Bisquera, A.; Ravenscroft, J.; Moss, C.; O'Toole, E.A.; Burrows, N.; Leech, S. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: e101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. (26th August 2019) Authors: Simpson, J.K.; Martinez‐Queipo, M.; Onoufriadis, A.; Tso, S.; Glass, E.; Liu, L.; Higashino, T.; Scott, W.; Tierney, C.; Simpson, M.A.; Desomchoke, R.; Youssefian, L.; SaeIdian, A.H; Vahidnezhad, H.; Bisquera, A.; Ravenscroft, J.; Moss, C.; O'Toole, E.A.; Burrows, N.; Leech, S. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: 729 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 一项关于基因突变及其与不同鱼鳞病类型相关性的研究. (28th February 2020) Authors: Simpson, J.K.; Martinez‐Queipo, M.; Onoufriadis, A.; Tso, S.; Glass, E.; Liu, L.; Higashino, T.; Scott, W.; Tierney, C.; Simpson, M.A.; Desomchoke, R.; Youssefian, L.; SaeIdian, A.H.; Vahidnezhad, H.; Bisquera, A.; Ravenscroft, J.; Moss, C.; O'Toole, E.A.; Burrows, N.; Leech, S. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: e114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A. (10th April 2020) Authors: Abd Elmaksoud, M. S.; Gomaa, N. S.; Azouz, H. G.; On, C. N. V.; Ho, C. T.; Omar, T. E.; McGrath, J. A.; Onoufriadis, A. Journal: Clinical and experimental dermatology Issue: Volume 45:Number 6(2020) Page Start: 789 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Molecular basis and inheritance patterns of amyloidosis cutis dyschromica. (25th February 2020) Authors: Chiu, F. P. C.; Wessagowit, V.; Cakmak, M. F.; Doolan, B. J.; Kootiratrakarn, T.; Chaowalit, P.; Bunnag, T.; Simpson, M. A.; McGrath, J. A.; Onoufriadis, A. Journal: Clinical and experimental dermatology Issue: Volume 45:Number 5(2020) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities. (25th March 2020) Authors: Oktem, A.; Doolan, B. J.; Akay, B. N.; Onoufriadis, A.; Okcu Heper, A.; Kocak, O.; Ersoy-Evans, S.; McGrath, J. A. Journal: Clinical and experimental dermatology Issue: Volume 45:Number 5(2020) Page Start: 654 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Prevalence, pathophysiology and management of itch in epidermolysis bullosa. (29th November 2020) Authors: Papanikolaou, M.; Onoufriadis, A.; Mellerio, J.E.; Nattkemper, L.A.; Yosipovitch, G.; Steinhoff, M.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 184:Number 5(2021) Page Start: 816 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics. (1st February 2021) Authors: Chiu, F.P.‐C.; Doolan, B.J.; McGrath, J.A.; Onoufriadis, A. Journal: British journal of dermatology Issue: Volume 184:Number 4(2021) Page Start: 606 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations. (2nd November 2020) Authors: Onoufriadis, A.; Cabezas, A.; Ng, J.C.F.; Canales, J.; Costas, M.J.; Ribeiro, J.M.; Rodrigues, J.R.; McAleer, M.A.; Castelo‐Soccio, L.; Simpson, M.A.; Fraternali, F.; Irvine, A.D.; Cameselle, J.C.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 184:Number 5(2021) Page Start: 935 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A germline mutation in the platelet‐derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis. (5th February 2021) Authors: Onoufriadis, A.; Boulouadnine, B.; Dachy, G.; Higashino, T.; Huang, H.Y.; Hsu, C.K.; Simpson, M.A.; Bork, K.; Demoulin, J.B.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 184:Number 5(2021) Page Start: 967 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗