Autres publications
Publications 2025
Jawaid T, Elbarougy DE, Lavu S, Buia G, Senum SR, Olinger E, Yang H, McDonnell SK, Bublitz JT, Ma J, Audrézet MP, Madsen CD, Schauer RS, Baker TA, Gregory AV, Orr SG, Barroso-Gil M, Neatu R, Joli G, Dahl NK, Kline TL, Gillion V, Dahan K, Jouret F, Perrone RD, Steinman TI, Peters DJM, Gitomer BY, Watnick TJ, Coto E, Chebib FT, Hogan MC, Olson JE, Larson NB, Ars E, Halbritter J, Demoulin N, Torres VE, Sayer JA, Cornec-Le Gall E, Harris PC; Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center.J Am Soc Nephrol. 2025 Feb 3. doi: 10.1681/ASN.0000000613. Online ahead of print.PMID: 39899384
Geertsema P, Gansevoort RT, Arici M, Capasso G, Cornec-Le-Gall E, Furlano M, Fuster DG, Galletti F, Gómez-Dos-Santos V, Perez-Gomez MV, Goumenos D, Halbritter J, Jambon E, Korst U, Leliveld AM, Felip MM, Figueiredo A, Nijenhuis T, Olsburgh J, Pol RA, Sayer JA, Stippel D, Torra R, Müller RU, Casteleijn NF; members of the study group.Nephrol Dial Transplant. 2025 Jan 23:gfaf019. doi: 10.1093/ndt/gfaf019. Online ahead of print.PMID: 39848914
Kidney Disease: Improving Global Outcomes (KDIGO) ADPKD Work Group.Kidney Int. 2025 Feb;107(2S):S1-S239. doi: 10.1016/j.kint.2024.07.009.PMID: 39848759 Free article. No abstract available.
Torres VE, Ahn C, Barten TRM, Brosnahan G, Cadnapaphornchai MA, Chapman AB, Cornec-Le Gall E, Drenth JPH, Gansevoort RT, Harris PC, Harris T, Horie S, Liebau MC, Liew M, Mallett AJ, Mei C, Mekahli D, Odland D, Ong ACM, Onuchic LF, Pei YP, Perrone RD, Rangan GK, Rayner B, Torra R, Balk EM, Gordon CE, Earley A, Mustafa RA, Devuyst O.Kidney Int. 2025 Feb;107(2):234-254. doi: 10.1016/j.kint.2024.07.010.PMID: 39848746 Free article.
Iatridi F, Carrero JJ, Gall EC, Kanbay M, Luyckx V, Shroff R, Ferro CJ.Nephrol Dial Transplant. 2025 Feb 4;40(2):273-282. doi: 10.1093/ndt/gfae209.PMID: 39299913 Free PMC article. The Kidney Disease: Improving Global Outcomes (KDIGO) 2024 Guideline for Identification and Management of Chronic Kidney Disease (CKD) is a welcome development, coming 12 years after the paradigm-changing 2012 guidelines. ...As such, the KDIGO 2024 CKD …
Publications 2024
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Tran Mau-Them F, Nambot S, Faivre L, Ars E, Torra R, Ong ACM, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium, and Genkyst Study Group.Am J Kidney Dis. 2024 Dec 26:S0272-6386(24)01126-0. doi: 10.1053/j.ajkd.2024.10.009. Online ahead of print.PMID: 39732359 Free article.
Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall E, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups.Nephrol Dial Transplant. 2024 Dec 2:gfae265. doi: 10.1093/ndt/gfae265. Online ahead of print.PMID: 39673454
Genomics in the kidney transplant clinic: the future standard of care?
Cornec-Le Gall E, Mallett AJ.Kidney Int. 2024 Jul;106(1):18-20. doi: 10.1016/j.kint.2024.05.003.PMID: 38906652
Iatridi F, Carrero JJ, Gall EC, Kanbay M, Luyckx V, Shroff R, Ferro CJ.Nephrol Dial Transplant. 2025 Feb 4;40(2):273-282. doi: 10.1093/ndt/gfae209.PMID: 39299913 Free PMC article. The Kidney Disease: Improving Global Outcomes (KDIGO) 2024 Guideline for Identification and Management of Chronic Kidney Disease (CKD) is a welcome development, coming 12 years after the paradigm-changing 2012 guidelines. ...As such, the KDIGO 2024 CKD …
Uromodulin processing in DNAJB11-kidney disease
Mariniello M, Schiano G, Yoshifuji A, Gillion V, Sayer JA, Jouret F; Genkyst Study Group; Le Meur Y, Cornec-Le Gall E, Olinger EG, Devuyst O. Uromodulin processing in DNAJB11-kidney disease. Kidney Int. 2024 Feb;105(2):376-380. doi: 10.1016/j.kint.2023.11.008. Epub 2023 Nov 26. PMID: 38016513.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Tran Mau-Them F, Nambot S, Faivre L, Ars E, Torra R, Ong ACM, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium, and Genkyst Study Group.Am J Kidney Dis. 2024 Dec 26:S0272-6386(24)01126-0. doi: 10.1053/j.ajkd.2024.10.009. Online ahead of print.PMID: 39732359 Free article.
Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall E, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups.Nephrol Dial Transplant. 2024 Dec 2:gfae265. doi: 10.1093/ndt/gfae265. Online ahead of print.PMID: 39673454
Genomics in the kidney transplant clinic: the future standard of care?
Cornec-Le Gall E, Mallett AJ.Kidney Int. 2024 Jul;106(1):18-20. doi: 10.1016/j.kint.2024.05.003.PMID: 38906652
Publications 2023
Verebi C, Gravrand V, Pacault M, Audrezet MP, Couque N, Vincent MC, Leturcq F, Tsatsaris V, Bienvenu T, Nectoux J. Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives [Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook]. Gynecol Obstet Fertil Senol. 2023 Oct;51(10):463-470. French. doi: 10.1016/j.gofs.2023.07.005. Epub 2023 Jul 28. PMID: 37517661.
What Is Autosomal Dominant Polycystic Kidney Disease?
Alam A, Cornec-Le Gall E, Perrone RD. What Is Autosomal Dominant Polycystic Kidney Disease? JAMA. 2023 Apr 4;329(13):1128. doi: 10.1001/jama.2023.2161. PMID: 36930140.
Le Meur Y, Nowak E, Barrou B, Thierry A, Badet L, Buchler M, Rerolle JP, Golbin L, Duveau A, Dantal J, Merville P, Kamar N, Demini L, Zal F. Evaluation of the efficacy of HEMO2life®, a marine OXYgen carrier for Organ Preservation (OxyOp2) in renal transplantation: study protocol for a multicenter randomized trial. Trials. 2023 May 1;24(1):302. doi: 10.1186/s13063-023-07302-3. PMID: 37127632 PMCID: PMC10150461
Diagnosing and treating ANCA-associated vasculitis: an updated review for clinical practice
Chevet B, Cornec D, Casal Moura M, Cornec-Le Gall E, Fervenza FC, Warrington KJ, Specks U, Berti A. Diagnosing and treating ANCA-associated vasculitis: an updated review for clinical practice. Rheumatology (Oxford). 2023 May 2;62(5):1787-1803. doi: 10.1093/rheumatology/keac623. PMID: 36315063.
Mahevas M, Audard V, Rousseau A, Cez A, Guerrot D, Verhelst D, Delahousse M, Hanrotel C, Pillebout E, Daugas E, Krastinova E, Valeyre D, Boffa JJ; GSF French Sarcoidosis Group. Efficacy and safety of methylprednisolone pulse followed by oral prednisone vs. oral prednisone alone in sarcoidosis tubulointerstitial nephritis: a randomized, open-label, controlled clinical trial. Nephrol Dial Transplant. 2023 Mar 31;38(4):961-968. doi: 10.1093/ndt/gfac227. PMID: 36066903.
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA; Genomics England Research Consortium; Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease. Gastroenterology. 2024 May;166(5):902-914. doi: 10.1053/j.gastro.2023.12.007. Epub 2023 Dec 13. PMID: 38101549.
Publications antérieures
Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R; Genomics England Research Consortium; Genkyst Study Group, Le Meur Y, Audrézet MP, Cornec-Le Gall E. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis, The American Journal of Human Genetics (2022) PMCID: PMC9388391
Lefèvre S, Audrézet MP, Halimi JM, Longuet H, Bridoux F, Ecotière L, Augusto JF, Duveau A, Renaudineau E, Vigneau C, Frouget T, Charasse C, Gueguen L, Perrichot R, Couvrat G, Seret G; GENKYST Study Group, Le Meur Y, Cornec-Le Gall E. Diagnosis and Risk Factors for Intracranial Aneurysms in Autosomal Polycystic Kidney Disease: A cross-sectional study from the Genkyst Cohort. Nephrol Dial Transplant. 2022 PMCID: PMC9388391
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
Huynh VT, Audrézet MP, Sayer JA, Ong AC, Lefevre S, Le Brun V, Després A, Senum SR, Chebib FT, Barroso-Gil M, Patel C, Mallett AJ, Goel H, Mallawaarachchi AC, Van Eerde AM, Ponlot E, Kribs M; Genkyst Study Group, Genomics England Research Consortium; Le Meur Y, Harris PC, Cornec-Le Gall E. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney Int. 2020 Aug;98(2):476-487. doi: 10.1016/j.kint.2020.02.022. Epub 2020 Mar 23. PMID: 32631624; PMCID: PMC9749391
Autosomal Dominant Polycystic Kidney Disease
Cornec-Le Gall E, Alam A, Perrone R Autosomal Dominant Polycystic Kidney Disease, The Lancet, 2019 https://doi.org/10.1016/S0140-6736(18)32782-X
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease
Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE, Genkyst Study Group, the HALT Progression of Polycystic Kidney Disease Group, the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC. Monoallelic Mutations to DNAJB11 cause Atypical Autosomal Dominant Polycystic Kidney Disease Am J Hum Genet. 2018 May 3;102(5):832-844 PMCID: PMC5986722
PC Genetic complexity of autosomal dominant polycystic kidney and liver disease
Cornec-Le Gall E, Torres VE, Harris PC Genetic complexity of autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrology 2018 Jan;29(1):13-23 PMCID: PMC5748917
Cornec-Le Gall, E, Audrezet, MP, Renaudineau, E, Hourmant, M, Charasse, C, Michez, E, Frouget, T, Vigneau, C, Dantal, J, Siohan, P, Longuet, H, Gatault, P, Ecotière, L, Bridoux, F, Mandart, L, Hanrotel-Saliou, C, Stanescu, C, Depraetre, P, Gie, S, Massad, M, Kersalé, A, Seret, G, Augusto, J, Saliou, P, Maestri, S, Chen, JM, Harris, PC, Ferec, C, Le Meur, Y: PKD2-Related Autosomal Dominant Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis. Am J Kidney Dis, 2017 Oct;70(4):476-485. PMCID: PMC5610929
Cornec-Le Gall E, Blais J, Irazabal MV, Devuyst O, Gansevoort R, Perrone R, Chapman A, Czerwiec F, Ouyang J, Heyer CM, Senum SR, Le Meur Y, Torres VE, Harris PC Can we further enrich ADPKD clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial. Nephrology, dialysis, transplantation, 2017 PMCID: PMC5888998
The PROPKD Score: A New Algorithm to Predict Renal Survival
Cornec-Le Gall E, Audrézet MP, Rousseau A, Hourmant M, Renaudineau E, Charasse C, Morin MP, Moal MC, Dantal J, Wehbe B, Perrichot R, Frouget T, Vigneau C, Potier J, Jousset P, Guillodo MP, Siohan P, Terki N, Sawadogo T, Legrand D, Menoyo-Calonge V, Benarbia S, Besnier D, Longuet H, Férec C, Le Meur Y. The PROPKD Score: A New Algorithm to Predict Renal Survival E Cornec-Le Gall in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. 2016 Mar ;27(3): 942-51 PMCID: PMC4769200
Type of PKD1 mutation influences renal outcome in ADPKD
Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Férec C, Le Meur Y. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013 May; 24(6):1006-13 PMCID: PMC3665389