Les publications
Nos publications récentes
Halbritter J, Figueres L, Van Eerde AM, Capasso G, Hoorn EJ, Nijenhuis T, Perez-Gomez MV, Sayer JA, Simons M, Walsh S, Zagorec N, Müller RU, Gall EC. Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERA. Nephrol Dial Transplant. 2025 Jun 3:gfaf092. doi: 10.1093/ndt/gfaf092. Epub ahead of print. PMID: 40459916.
SGLT2 inhibition for patients with ADPKD - closing the evidence gap
Roman-Ulrich Müller, Dominique Guerrot, Michel Chonchol, Roland Schmitt, Kiyotaka Uchiyama, Ron T Gansevoort, Emilie Cornec-Le Gall PMID: 40199734 DOI: 10.1093/ndt/gfaf061
Nephrectomy in Autosomal Dominant Polycystic Kidney Disease: A consensus statement of the ERA Genes & Kidney Working Group.
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
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.
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
KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD).
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.
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.
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
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
Diagnosis and Risk Factors for Intracranial Aneurysms in Autosomal Polycystic Kidney Disease: A cross-sectional study from the Genkyst Cohort
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
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