Publications:

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs10113875

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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: rs10113875

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

American Journal Of Human Genetics

Hall, Emma A EA; Nahorski, Michael S MS; Murray, Lyndsay M LM; Shaheen, Ranad R; Perkins, Emma E; Dissanayake, Kosala N KN; Kristaryanto, Yosua Y; Jones, Ross A RA; Vogt, Julie J; Rivagorda, Manon M; Handley, Mark T MT; Mali, Girish R GR; Quidwai, Tooba T; Soares, Dinesh C DC; Keighren, Margaret A MA; McKie, Lisa L; Mort, Richard L RL; Gammoh, Noor N; Garcia-Munoz, Amaya A; Davey, Tracey T; Vermeren, Matthieu M; Walsh, Diana D; Budd, Peter P; Aligianis, Irene A IA; Faqeih, Eissa E; Quigley, Alan J AJ; Jackson, Ian J IJ; Kulathu, Yogesh Y; Jackson, Mandy M; Ribchester, Richard R RR; von Kriegsheim, Alex A; Alkuraya, Fowzan S FS; Woods, C Geoffrey CG; Maher, Eamonn R ER; Mill, Pleasantine P

Publication Date: 2017-05-04

Variant appearance in text: rs10113875

PubMed Link: 28413018

Variant Present in the following documents:

• mmc5.pdf
• mmc1.pdf

View BVdb publication page

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs10113875

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page