1. A case of ocular cystinosis associated with two potentially severe CTNS mutations. (4th March 2019) Authors: Browning, Andrew C.; Figueiredo, Gustavo S; Baylis, Oliver; Montgomery, Emma; Beesley, Clare; Molinari, Elisa; Figueiredo, Francisco C.; Sayer, John A. Journal: Ophthalmic genetics Issue: Volume 40:Number 2(2019) Page Start: 157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Issue 10 (26th July 2021) Authors: Olinger, Eric; Alawi, Intisar Al; Al Riyami, Mohammed S.; Salmi, Isa Al; Molinari, Elisa; Faqeih, Eissa Ali; Al‐Hamed, Mohamed H.; Barroso‐Gil, Miguel; Powell, Laura; Al‐Hussaini, Abdulrahman A.; Rahim, Khawla A.; Almontashiri, Naif A. M.; Miles, Colin; Shril, Shirlee; Hildebrandt, Friedhelm; Con... Journal: Human mutation Issue: Volume 42:Issue 10(2021) Page Start: 1221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses. (4th May 2021) Authors: Powell, Laura; Samarakoon, Youhani H.; Ismail, Shehab; Sayer, John A. Journal: Small GTPases Issue: Volume 12:Number 3(2021) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome. Issue 3 (3rd November 2022) Authors: Devlin, Laura A.; Coles, Janice; Jackson, Claire L.; Barroso‐Gil, Miguel; Green, Ben; Walker, Woolf T.; Thomas, N. Simon; Thompson, James; Rock, Simon A.; Neatu, Ruxandra; Powell, Laura; Molinari, Elisa; Wilson, Ian J.; Cordell, Heather J.; Olinger, Eric; Miles, Colin G.; Sayer, John A.; Wheway, ... Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease. Issue 1 (15th March 2022) Authors: Olinger, Eric; Phakdeekitcharoen, Pran; Caliskan, Yasar; Orr, Sarah; Mabillard, Holly; Pickles, Charles; Tse, Yincent; Wood, Katrina; Sayer, John A. Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cell preservation methods and its application to studying rare disease. (April 2021) Authors: Dewhurst, Rebecca Marie; Molinari, Elisa; Sayer, John A. Journal: Molecular and cellular probes Issue: Volume 56(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Issue 12 (19th June 2018) Authors: Fearn, Amy; Allison, Benjamin; Rice, Sarah J.; Edwards, Noel; Halbritter, Jan; Bourgeois, Soline; Pastor‐Arroyo, Eva M.; Hildebrandt, Friedhelm; Tasic, Velibor; Wagner, Carsten A.; Hernando, Nati; Sayer, John A.; Werner, Andreas Journal: Physiological reports Issue: Volume 6:Issue 12(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Emerging treatments and personalised medicine for ciliopathies associated with cystic kidney disease. (3rd October 2017) Authors: Molinari, Elisa; Sayer, John A. Journal: Expert opinion on orphan drugs Issue: Volume 5:Number 10(2017:Oct.) Page Start: 785 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients. Issue 12 (8th October 2022) Authors: Al‐Hamed, Mohamed H.; Hussein, Maged H.; Shah, Yaser; Al‐Mojalli, Hamad; Alsabban, Essam; Alshareef, Turki; Altayyar, Ali; Elshouny, Samir; Ali, Wafaa; Abduljabbar, Mai; AlOtaibi, Afaf; AlShammasi, Amal; Akili, Rana; Abouelhoda, Mohamed; Sayer, John A.; Dasouki, Majed J.; Imtiaz, Faiqa Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: e24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Healthcare recommendations for Joubert syndrome. Issue 1 (11th November 2019) Authors: Bachmann‐Gagescu, Ruxandra; Dempsey, Jennifer C.; Bulgheroni, Sara; Chen, Maida L.; D'Arrigo, Stefano; Glass, Ian A.; Heller, Theo; Héon, Elise; Hildebrandt, Friedhelm; Joshi, Nirmal; Knutzen, Dana; Kroes, Hester Y.; Mack, Stephen H.; Nuovo, Sara; Parisi, Melissa A.; Snow, Joseph; Summers, Angela... Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗