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Select item 98325801.

Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease

Maroun Chedid, Christian Hanna, Ghaith Zaatari, Yaman Mkhaimer, Prajwal Reddy, Laureano Rangel, Dalia Zubidat, Daniel-Hasan Nabil Kaidbay, Maria V. Irazabal, Heidi M. Connolly, Sarah R. Senum, Charles D. Madsen, Marie C. Hogan, Ziad Zoghby, Peter C. Harris, Vicente E. Torres, Jonathan N. Johnson, Fouad T. Chebib

Am J Nephrol. Author manuscript; available in PMC 2023 Jan 11.

Published in final edited form as: Am J Nephrol. 2022; 53(4): 316–324. Published online 2022 Mar 21. doi: 10.1159/000522377

PMCID:: PMC9832580

Abstract Article PDF–741K

Select item 97827362.

Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease

Miranda Durkie, Jiehan Chong, Manoj K. Valluru, Peter C. Harris, Albert C. M. Ong

Genet Med. Author manuscript; available in PMC 2022 Dec 23.

Published in final edited form as: Genet Med. 2021 Apr; 23(4): 689–697. Published online 2020 Nov 10. doi: 10.1038/s41436-020-01026-4

PMCID:: PMC9782736

Abstract Article PDF–1.1M

Select item 97493913.

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

Vinh T. Huynh, Marie-Pierre Audrézet, John A. Sayer, Albert C. Ong, Siriane Lefevre, Valoris Le Brun, Aurore Després, Sarah R. Senum, Fouad T. Chebib, Miguel Barroso-Gil, Chirag Patel, Andrew J. Mallett, Himanshu Goel, Amali C. Mallawaarachchi, Albertien M. Van Eerde, Eléonore Ponlot, Marc Kribs, Genkyst Study Group, Genomics England Research Consortium, Yannick Le Meur, Peter C. Harris, Emilie Cornec-Le Gall

Kidney Int. Author manuscript; available in PMC 2022 Dec 14.

Published in final edited form as: Kidney Int. 2020 Aug; 98(2): 476–487. Published online 2020 Mar 23. doi: 10.1016/j.kint.2020.02.022

PMCID:: PMC9749391

Abstract Article PDF–851K

Select item 93883914.

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

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

Am J Hum Genet. 2022 Aug 4; 109(8): 1484–1499. Published online 2022 Jul 26. doi: 10.1016/j.ajhg.2022.06.013

PMCID:: PMC9388391

Abstract Article PDF–3.1M

Select item 93144845.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 92789576.

Renal plasticity revealed through reversal of polycystic kidney disease in mice

Ke Dong, Chao Zhang, Xin Tian, Daniel Coman, Fahmeed Hyder, Ming Ma, Stefan Somlo

Nat Genet. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Nat Genet. 2021 Dec; 53(12): 1649–1663. Published online 2021 Oct 11. doi: 10.1038/s41588-021-00946-4

PMCID:: PMC9278957

Abstract Article PDF–6.2M

Select item 87641207.

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

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

Am J Hum Genet. 2022 Jan 6; 109(1): 136–156. Published online 2021 Dec 9. doi: 10.1016/j.ajhg.2021.11.016

PMCID:: PMC8764120

Abstract Article PDF–2.5M

Select item 82160018.

Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

Esra Arslan Ateş, Ayberk Turkyilmaz, Kenan Delil, Ceren Alavanda, Mehmet Ali Söylemez, Bilgen Bilge Geçkinli, Pinar Ata, Ahmet Arman

Mol Syndromol. 2021 Jun; 12(3): 179–185. Published online 2021 Apr 1. doi: 10.1159/000513611

PMCID:: PMC8216001

Abstract Article PDF–403K

Select item 79664759.

Should Patients with Autosomal Dominant Polycystic Kidney Disease Be Screened for Cerebral Aneurysms?

M.N. Rozenfeld, S.A. Ansari, A. Shaibani, E.J. Russell, P. Mohan, M.C. Hurley

AJNR Am J Neuroradiol. 2014 Jan; 35(1): 3–9. doi: 10.3174/ajnr.A3437

PMCID:: PMC7966475

Abstract Article PDF–175K

Select item 793806110.

Characteristics of Patients with End-Stage Kidney Disease in ADPKD

Shehbaz S. Shukoor, Lisa E. Vaughan, Marie E. Edwards, Sravanthi Lavu, Timothy L. Kline, Sarah R. Senum, Yaman Mkhaimer, Ghaith Zaatari, Maria V. Irazabal, Reem Neal, Marie C. Hogan, Ziad M. Zoghby, Peter C. Harris, Vicente E. Torres, Fouad T. Chebib

Kidney Int Rep. 2021 Mar; 6(3): 755–767. Published online 2020 Dec 31. doi: 10.1016/j.ekir.2020.12.016

PMCID:: PMC7938061

Abstract Article PDF–1.7M

Select item 772843811.

The heteromeric PC-1/PC-2 polycystin complex is activated by the PC-1 N-terminus

Kotdaji Ha, Mai Nobuhara, Qinzhe Wang, Rebecca V Walker, Feng Qian, Christoph Schartner, Erhu Cao, Markus Delling

eLife. 2020; 9: e60684. Published online 2020 Nov 9. doi: 10.7554/eLife.60684

PMCID:: PMC7728438

Abstract Article PDF–7.9M

Select item 749728912.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 747471513.

Cyst infection in autosomal dominant polycystic kidney disease: our experience at Toranomon Hospital and future issues

Tatsuya Suwabe

Clin Exp Nephrol. 2020; 24(9): 748–761. Published online 2020 Jul 22. doi: 10.1007/s10157-020-01928-2

PMCID:: PMC7474715

Abstract Article PDF–1005K

Select item 745508814.

The value of genotypic and imaging information to predict functional and structural outcomes in ADPKD

Sravanthi Lavu, Lisa E. Vaughan, Sarah R. Senum, Timothy L. Kline, Arlene B. Chapman, Ronald D. Perrone, Michal Mrug, William E. Braun, Theodore I. Steinman, Frederic F. Rahbari-Oskoui, Godela M. Brosnahan, Kyongtae T. Bae, Douglas Landsittel, Fouad T. Chebib, Alan S.L. Yu, Vicente E. Torres, the HALT PKD and CRISP Study Investigators, Peter C. Harris

JCI Insight. 2020 Aug 6; 5(15): e138724. Published online 2020 Aug 6. doi: 10.1172/jci.insight.138724

PMCID:: PMC7455088

Abstract Article PDF–21M

Select item 739487815.

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Ria Schönauer, Sebastian Baatz, Melanie Nemitz-Kliemchen, Valeska Frank, Friederike Petzold, Sebastian Sewerin, Bernt Popp, Johannes Münch, Steffen Neuber, Carsten Bergmann, Jan Halbritter

Genet Med. 2020; 22(8): 1374–1383. Published online 2020 May 13. doi: 10.1038/s41436-020-0816-3

PMCID:: PMC7394878

Abstract Article PDF–1.7M

Select item 738042116.

Foam Sclerotherapy for Cyst Volume Reduction in Autosomal Dominant Polycystic Kidney Disease: A Prospective Cohort Study

Ioan-Andrei Iliuta, Beili Shi, Marina Pourafkari, Pedram Akbari, Giancarlo Bruni, Ralph Hsiao, Steffan F. Stella, Korosh Khalili, Eran Shlomovitz, York Pei

Kidney Med. 2019 Nov-Dec; 1(6): 366–375. Published online 2019 Oct 18. doi: 10.1016/j.xkme.2019.07.015

PMCID:: PMC7380421

Abstract Article PDF–2.4M

Select item 721879617.

Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Katharina Hopp, Emilie Cornec-Le Gall, Sarah R Senum, Iris BAW te Paske, Sonam Raj, Sravanthi Lavu, Saurabh Baheti, Marie E Edwards, Charles D Madsen, Christina M Heyer, Albert CM Ong, Kyongtae T. Bae, Richard Fatica, Theodore I. Steinman, Arlene B Chapman, Berenice Gitomer, Ronald D Perrone, Frederic F Rahbari-Oskoui, Vicente E Torres, the HALT Progression of Polycystic Kidney Disease Group, the ADPKD Modifier Study, Peter C Harris

Kidney Int. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Kidney Int. 2020 Feb; 97(2): 370–382. Published online 2019 Oct 9. doi: 10.1016/j.kint.2019.08.038

PMCID:: PMC7218796

Abstract Article PDF–2.3M

Select item 721074118.

Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease

Elena M. Wilson, Jungmin Choi, Vicente E. Torres, Stefan Somlo, Whitney Besse

Kidney Int Rep. 2020 May; 5(5): 727–731. Published online 2020 Jan 30. doi: 10.1016/j.ekir.2020.01.009

PMCID:: PMC7210741

Article PDF–1.0M

Select item 719695819.

Genomic Analysis avoids Misdiagnosis of Adults with Bilateral Renal Cysts

Ashima Gulati, Kyongtae T. Bae, Stefan Somlo, Terry Watnick

Ann Intern Med. Author manuscript; available in PMC 2020 May 4.

Published in final edited form as: Ann Intern Med. 2018 Jul 17; 169(2): 130–131. Published online 2018 Mar 27. doi: 10.7326/L17-0644

PMCID:: PMC7196958

Article PDF–1.0M

Select item 713616820.

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

Charlotte Gimpel, Carsten Bergmann, Detlef Bockenhauer, Luc Breysem, Melissa A. Cadnapaphornchai, Metin Cetiner, Jan Dudley, Francesco Emma, Martin Konrad, Tess Harris, Peter C. Harris, Jens König, Max C. Liebau, Matko Marlais, Djalila Mekahli, Alison M. Metcalfe, Jun Oh, Ronald D. Perrone, Manish D. Sinha, Andrea Titieni, Roser Torra, Stefanie Weber, Paul J. D. Winyard, Franz Schaefer

Nat Rev Nephrol. 2019; 15(11): 713–726. Published online 2019 May 22. doi: 10.1038/s41581-019-0155-2

PMCID:: PMC7136168

Abstract Article PDF–1.2M

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