1. Aplasia cutis congenita associated with a heterozygous loss‐of‐function UBA2 variant. (1st March 2020) Authors: Wang, Y.; Dupuis, L.; Jobling, R.; Kannu, P. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: 792 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Aplasia cutis congenita associated with a heterozygous loss‐of‐function UBA2 variant. (27th November 2019) Authors: Wang, Y.; Dupuis, L.; Jobling, R.; Kannu, P. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: 792 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Buschke–Ollendorff syndrome: a novel case series and systematic review. (1st April 2016) Authors: Pope, V.; Dupuis, L.; Kannu, P.; Mendoza‐Londono, R.; Sajic, D.; So, J.; Yoon, G.; Lara‐Corrales, I. Journal: British journal of dermatology Issue: Volume 174:Number 4(2016) Page Start: 723 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Buschke–Ollendorff syndrome: a novel case series and systematic review. (8th March 2016) Authors: Pope, V.; Dupuis, L.; Kannu, P.; Mendoza‐Londono, R.; Sajic, D.; So, J.; Yoon, G.; Lara‐Corrales, I. Journal: British journal of dermatology Issue: Volume 174:Number 4(2016) Page Start: 723 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genotype–phenotype data from a case series of patients with mosaic neurofibromatosis type 1. (1st November 2018) Authors: Marwaha, A.; Malach, J.; Shugar, A.; Hedges, S.; Weinstein, M.; Parkin, P.C.; Pope, E.; Lara‐Corrales, I.; Kannu, P. Journal: British journal of dermatology Issue: Volume 179:Number 5(2018) Page Start: 1216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genotype–phenotype data from a case series of patients with mosaic neurofibromatosis type 1. (21st September 2018) Authors: Marwaha, A.; Malach, J.; Shugar, A.; Hedges, S.; Weinstein, M.; Parkin, P.C.; Pope, E.; Lara‐Corrales, I.; Kannu, P. Journal: British journal of dermatology Issue: Volume 179:Number 5(2018) Page Start: 1216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration. Issue 3 (17th July 2018) Authors: Moran, J.; G. Sanderson, K.; Maynes, J.; Vig, A.; Batmanabane, V.; Kannu, P.; Tavares, E.; Vincent, A.; Héon, E. Journal: Clinical genetics Issue: Volume 94:Issue 3/4(2018) Page Start: 368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis. (1st April 2017) Authors: Jobling, R.K.; Lara‐Corrales, I.; Hsiao, M.‐C.; Shugar, A.; Hedges, S.; Messiaen, L.; Kannu, P. Journal: British journal of dermatology Issue: Volume 176:Number 4(2017) Page Start: 1077 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis. (5th February 2017) Authors: Jobling, R.K.; Lara‐Corrales, I.; Hsiao, M.‐C.; Shugar, A.; Hedges, S.; Messiaen, L.; Kannu, P. Journal: British journal of dermatology Issue: Volume 176:Number 4(2017) Page Start: 1077 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗