1. 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) ↗
2. 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) ↗
3. 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) ↗
4. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Issue 2 (14th September 2021) Authors: Mabillard, Holly; Sayer, John A; Olinger, Eric Journal: Nephrology dialysis transplantation Issue: Volume 38:Issue 2(2023) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy. (3rd May 2022) Authors: Claus, Laura; Stallworth, Jennifer; van Jaarsveld, Richard; Turner, Joshu; Hawks, Alexandra; May, Melanie; Flanagan-Steet, Heather; Louie, Raymond; Silver, Josh; Lerner-Ellise, Jordan; Morel, Chantal; Mighton, Chloe; Ziegler, Alban; Barakat, Stefan; Dahan, Karin; Demoulin, Nathalie; Jean Goffin, ... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin. Issue 3 (March 2022) Authors: Joseph, Christina B.; Mariniello, Marta; Yoshifuji, Ayumi; Schiano, Guglielmo; Lake, Jennifer; Marten, Jonathan; Richmond, Anne; Huffman, Jennifer E.; Campbell, Archie; Harris, Sarah E.; Troyanov, Stephan; Cocca, Massimiliano; Robino, Antonietta; Thériault, Sébastien; Eckardt, Kai-Uwe; Wuttke, Ma... Journal: Journal of the American Society of Nephrology Issue: Volume 33:Issue 3(2022) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MO039IDENTIFICATION OF A RECURRENT SYNONYMOUS GENETIC VARIANT IN NPHP3 LEADING TO NEPHRONOPHTHISIS AND CONGENITAL HEPATIC FIBROSIS. (29th May 2021) Authors: Olinger, Eric; Al Alawi, Intisar; Molinari, Elisa; Ali Faqeih, Eissa; Al Hamed, Mohamed; Barroso-Gil, Miguel; Wilson, Ian; Research Consortium, Genomics England; Sayer, John Journal: Nephrology dialysis transplantation Issue: Volume 36(2021)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. MO042: Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease. (3rd May 2022) Authors: Olinger, Eric; Phakdeekitcharoen, Pran; Caliskan, Yasar; Mabillard, Holly; Pickles, Charles; Tse, Yincent; Wood, Katrina; Sayer, John Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular genetics of renal ciliopathies. (30th June 2021) Authors: Barroso-Gil, Miguel; Olinger, Eric; Sayer, John A. Journal: Biochemical Society transactions Issue: Volume 49:Number 3(2021) Page Start: 1205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. (9th December 2021) Authors: Mohamed, Maha; Tellez, James; Bergmann, Carsten; Gale, Daniel P.; Sayer, John A.; Olinger, Eric Journal: Annals of human genetics Issue: Volume 86:Number 3(2022) Page Start: 145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗