Publications:

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

Kidney International

Hopp, Katharina K; Cornec-Le Gall, Emilie E; Senum, Sarah R SR; Te Paske, Iris B A W IBAW; Raj, Sonam S; Lavu, Sravanthi S; Baheti, Saurabh S; Edwards, Marie E ME; Madsen, Charles D CD; Heyer, Christina M CM; Ong, Albert C M ACM; Bae, Kyongtae T KT; Fatica, Richard R; Steinman, Theodore I TI; Chapman, Arlene B AB; Gitomer, Berenice B; Perrone, Ronald D RD; Rahbari-Oskoui, Frederic F FF; Torres, Vicente E VE; , ; Harris, Peter C PC

Publication Date: 2020-02

Variant appearance in text: PKD1: 4520G>A; Trp1507*

PubMed Link: 31874800

Variant Present in the following documents:

• Main text

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: PKD1: 4520G>A

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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