Publications:

---

Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype.

Kidney International Reports

Izzi, Claudia C; Dordoni, Chiara C; Delbarba, Elisa E; Mazza, Cinzia C; Savoldi, Gianfranco G; Econimo, Laura L; Cortinovis, Roberta R; Zeni, Letizia L; Martin, Eva E; Alberici, Federico F; Scolari, Francesco F

Publication Date: 2022-04

Variant appearance in text: PKD1: Gly1944Arg

PubMed Link: 35497784

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

---

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.

Circulation. Genomic And Precision Medicine

Carss, Keren J KJ; Baranowska, Anna A AA; Armisen, Javier J; Webb, Tom R TR; Hamby, Stephen E SE; Premawardhana, Diluka D; Al-Hussaini, Abtehale A; Wood, Alice A; Wang, Quanli Q; Deevi, Sri V V SVV; Vitsios, Dimitrios D; Lewis, Samuel H SH; Kotecha, Deevia D; Bouatia-Naji, Nabila N; Hesselson, Stephanie S; Iismaa, Siiri E SE; Tarr, Ingrid I; McGrath-Cadell, Lucy L; Muller, David W DW; Dunwoodie, Sally L SL; Fatkin, Diane D; Graham, Robert M RM; Giannoulatou, Eleni E; Samani, Nilesh J NJ; Petrovski, Slavé S; Haefliger, Carolina C; Adlam, David D

Publication Date: 2020-12

Variant appearance in text: PKD1: 5830G>A; Gly1944Arg

PubMed Link: 33125268

Variant Present in the following documents:

• hcg-13-e003030.pdf
• hcg-13-e003030-s002.pdf

View BVdb publication page

---

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal Of The American Society Of Nephrology : Jasn

Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2018-01

Variant appearance in text: PKD1: 5830G>A; Gly1944Arg

PubMed Link: 29038287

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports

Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M

Publication Date: 2016-08-08

Variant appearance in text: PKD1: Gly1944Arg

PubMed Link: 27499327

Variant Present in the following documents:

• Main text
• srep30850.pdf

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PKD1: 5830G>A; G1944R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Journal Of The American Society Of Nephrology : Jasn

Audrézet, Marie-Pierre MP; Corbiere, Christine C; Lebbah, Said S; Morinière, Vincent V; Broux, Françoise F; Louillet, Ferielle F; Fischbach, Michel M; Zaloszyc, Ariane A; Cloarec, Sylvie S; Merieau, Elodie E; Baudouin, Véronique V; Deschênes, Georges G; Roussey, Gwenaelle G; Maestri, Sandrine S; Visconti, Chiara C; Boyer, Olivia O; Abel, Carine C; Lahoche, Annie A; Randrianaivo, Hanitra H; Bessenay, Lucie L; Mekahli, Djalila D; Ouertani, Ines I; Decramer, Stéphane S; Ryckenwaert, Amélie A; Cornec-Le Gall, Emilie E; Salomon, Rémi R; Ferec, Claude C; Heidet, Laurence L

Publication Date: 2016-03

Variant appearance in text: PKD1: 5830G>A; Gly1944Arg

PubMed Link: 26139440

Variant Present in the following documents:

• Main text

View BVdb publication page

---