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1.

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

Lemoine, Hugo; Raud, Loann; Foulquier, François; Sayer, John A; Lambert, Baptiste; Olinger, Eric; Lefèvre, Siriane; Knebelmann, Bertrand; Harris, Peter C; Trouvé, Pascal; Desprès, Aurore; Duneau, Gabrielle; Matignon, Marie; Poyet, Anais; Jourde-Chiche, Noémie; Guerrot, Dominique; Lemoine, Sandrine; Seret, Guillaume; Barroso-Gil, Miguel; Bingham, Coralie; Gilbert, Rodney; Le Meur, Yannick; Audrézet, Marie-Pierre; Cornec-Le Gall, Emilie.

Am J Hum Genet; 109(8): 1484-1499, 2022 08 04.

Artículo en Inglés | MEDLINE | ID: mdl-35896117

2.

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

Devane, John; Ott, Elisabeth; Olinger, Eric G; Epting, Daniel; Decker, Eva; Friedrich, Anja; Bachmann, Nadine; Renschler, Gina; Eisenberger, Tobias; Briem-Richter, Andrea; Grabhorn, Enke Freya; Powell, Laura; Wilson, Ian J; Rice, Sarah J; Miles, Colin G; Wood, Katrina; Trivedi, Palak; Hirschfield, Gideon; Pietrobattista, Andrea; Wohler, Elizabeth; Mezina, Anya; Sobreira, Nara; Agolini, Emanuele; Maggiore, Giuseppe; Dahmer-Heath, Mareike; Yilmaz, Ali; Boerries, Melanie; Metzger, Patrick; Schell, Christoph; Grünewald, Inga; Konrad, Martin; König, Jens; Schlevogt, Bernhard; Sayer, John A; Bergmann, Carsten.

Am J Hum Genet; 109(5): 928-943, 2022 05 05.

Artículo en Inglés | MEDLINE | ID: mdl-35397207

3.

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

Senum, Sarah R; Li, Ying Sabrina M; Benson, Katherine A; Joli, Giancarlo; Olinger, Eric; Lavu, Sravanthi; Madsen, Charles D; Gregory, Adriana V; Neatu, Ruxandra; Kline, Timothy L; Audrézet, Marie-Pierre; Outeda, Patricia; Nau, Cherie B; Meijer, Esther; Ali, Hamad; Steinman, Theodore I; Mrug, Michal; Phelan, Paul J; Watnick, Terry J; Peters, Dorien J M; Ong, Albert C M; Conlon, Peter J; Perrone, Ronald D; Cornec-Le Gall, Emilie; Hogan, Marie C; Torres, Vicente E; Sayer, John A; Harris, Peter C.

Am J Hum Genet; 109(1): 136-156, 2022 01 06.

Artículo en Inglés | MEDLINE | ID: mdl-34890546

4.

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

Olinger, Eric; Schaeffer, Céline; Kidd, Kendrah; Elhassan, Elhussein A E; Cheng, Yurong; Dufour, Inès; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G; Kistler, Andreas D; Wilson, Ian J; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J; Köttgen, Anna; Conlon, Peter J; Wiesener, Michael; Sayer, John A; Rampoldi, Luca; Devuyst, Olivier.

Proc Natl Acad Sci U S A; 119(33): e2114734119, 2022 08 16.

Artículo en Inglés | MEDLINE | ID: mdl-35947615

5.

Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.

Orr, Sarah; Olinger, Eric; Iosifidou, Sotia; Barroso-Gil, Miguel; Neatu, Ruxandra; Wood, Katrina; Wilson, Ian; Sayer, John Andrew.

Ann Hum Genet; 88(1): 76-85, 2024 01.

Artículo en Inglés | MEDLINE | ID: mdl-37042117

6.

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G.

Nephrol Dial Transplant; 2024 Mar 27.

Artículo en Inglés | MEDLINE | ID: mdl-38544324

7.

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

Claus, Laura R; Chen, Chuan; Stallworth, Jennifer; Turner, Joshua L; Slaats, Gisela G; Hawks, Alexandra L; Mabillard, Holly; Senum, Sarah R; Srikanth, Sujata; Flanagan-Steet, Heather; Louie, Raymond J; Silver, Josh; Lerner-Ellis, Jordan; Morel, Chantal; Mighton, Chloe; Sleutels, Frank; van Slegtenhorst, Marjon; van Ham, Tjakko; Brooks, Alice S; Dorresteijn, Eiske M; Barakat, Tahsin Stefan; Dahan, Karin; Demoulin, Nathalie; Goffin, Eric Jean; Olinger, Eric; Larsen, Martin; Hertz, Jens Michael; Lilien, Marc R; Obeidová, Lena; Seeman, Tomas; Stone, Hillarey K; Kerecuk, Larissa; Gurgu, Mihai; Yousef Yengej, Fjodor A; Ammerlaan, Carola M E; Rookmaaker, Maarten B; Hanna, Christian; Rogers, R Curtis; Duran, Karen; Peters, Edith; Sayer, John A; van Haaften, Gijs; Harris, Peter C; Ling, Kun; Mason, Jennifer M; van Eerde, Albertien M; Steet, Richard.

Kidney Int; 104(5): 995-1007, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-37598857

8.

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

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, Gabrielle; Lucas, Jane S.

Clin Genet; 103(3): 330-334, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36273371

9.

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.

Mabillard, Holly; Sayer, John A; Olinger, Eric.

Nephrol Dial Transplant; 38(2): 271-282, 2023 02 13.

Artículo en Inglés | MEDLINE | ID: mdl-34519781

10.

Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.

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, Matthias; Cheng, Yurong; Corre, Tanguy; Kolcic, Ivana; Black, Corrinda; Bruat, Vanessa; Concas, Maria Pina; Sala, Cinzia; Aeschbacher, Stefanie; Schaefer, Franz; Bergmann, Sven; Campbell, Harry; Olden, Matthias; Polasek, Ozren; Porteous, David J; Deary, Ian J; Madore, Francois; Awadalla, Philip; Girotto, Giorgia; Ulivi, Sheila; Conen, David; Wuehl, Elke; Olinger, Eric; Wilson, James F; Bochud, Murielle; Köttgen, Anna; Hayward, Caroline; Devuyst, Olivier.

J Am Soc Nephrol; 33(3): 511-529, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-35228297

11.

UMOD and the architecture of kidney disease.

Devuyst, Olivier; Bochud, Murielle; Olinger, Eric.

Pflugers Arch; 474(8): 771-781, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35881244

12.

Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.

Olinger, Eric; Phakdeekitcharoen, Pran; Caliskan, Yasar; Orr, Sarah; Mabillard, Holly; Pickles, Charles; Tse, Yincent; Wood, Katrina; Sayer, John A.

Am J Med Genet C Semin Med Genet; 190(1): 109-120, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-35289079

13.

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.

Mohamed, Maha; Tellez, James; Bergmann, Carsten; Gale, Daniel P; Sayer, John A; Olinger, Eric.

Ann Hum Genet; 86(3): 145-152, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-34888854

14.

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.

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; Consortium, Genomics England Research; Wilson, Ian J; Sayer, John A.

Hum Mutat; 42(10): 1221-1228, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34212438

15.

Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease.

Ponte, Belen; Sadler, Marie C; Olinger, Eric; Vollenweider, Peter; Bochud, Murielle; Padmanabhan, Sandosh; Hayward, Caroline; Kutalik, Zoltán; Devuyst, Olivier.

Kidney Int; 100(6): 1282-1291, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34634361

16.

Gout.

Devuyst, Olivier; Olinger, Eric; Köttgen, Anna.

N Engl J Med; 388(13): e47, 2023 Mar 30.

Artículo en Inglés | MEDLINE | ID: mdl-36988609

17.

Molecular genetics of renal ciliopathies.

Barroso-Gil, Miguel; Olinger, Eric; Sayer, John A.

Biochem Soc Trans; 49(3): 1205-1220, 2021 06 30.

Artículo en Inglés | MEDLINE | ID: mdl-33960378

18.

Clinical and genetic spectra of kidney disease caused by REN mutations.

Schaeffer, Céline; Olinger, Eric.

Kidney Int; 98(6): 1397-1400, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-33276865

19.

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.

Olinger, Eric; Hofmann, Patrick; Kidd, Kendrah; Dufour, Inès; Belge, Hendrica; Schaeffer, Céline; Kipp, Anne; Bonny, Olivier; Deltas, Constantinos; Demoulin, Nathalie; Fehr, Thomas; Fuster, Daniel G; Gale, Daniel P; Goffin, Eric; Hodanová, Katerina; Huynh-Do, Uyen; Kistler, Andreas; Morelle, Johann; Papagregoriou, Gregory; Pirson, Yves; Sandford, Richard; Sayer, John A; Torra, Roser; Venzin, Christina; Venzin, Reto; Vogt, Bruno; Zivná, Martina; Greka, Anna; Dahan, Karin; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J; Devuyst, Olivier.

Kidney Int; 98(3): 717-731, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32450155

20.

Uromodulin processing in DNAJB11-kidney disease.

Mariniello, Marta; Schiano, Guglielmo; Yoshifuji, Ayumi; Gillion, Valentine; Sayer, John Andrew; Jouret, François; Le Meur, Yannick; Cornec-Le Gall, Emilie; Olinger, Eric Gregory; Devuyst, Olivier.

Kidney Int; 105(2): 376-380, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-38016513

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