Publications:

Single-cell analysis based dissection of clonality in myelofibrosis.

Nature Communications

Mylonas, Elena E; Yoshida, Kenichi K; Frick, Mareike M; Hoyer, Kaja K; Christen, Friederike F; Kaeda, Jaspal J; Obenaus, Matthias M; Noerenberg, Daniel D; Hennch, Cornelius C; Chan, Willy W; Ochi, Yotaro Y; Shiraishi, Yuichi Y; Shiozawa, Yusuke Y; Zenz, Thorsten T; Oakes, Christopher C CC; Sawitzki, Birgit B; Schwarz, Michaela M; Bullinger, Lars L; le Coutre, Philipp P; Rose-Zerilli, Matthew J J MJJ; Ogawa, Seishi S; Damm, Frederik F

Publication Date: 2020-01-07

Variant appearance in text: RYR1: G3521C

PubMed Link: 31911629

Variant Present in the following documents:

• 41467_2019_13892_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Acta Neuropathologica Communications

Garibaldi, Matteo M; Rendu, John J; Brocard, Julie J; Lacene, Emmanuelle E; Fauré, Julien J; Brochier, Guy G; Beuvin, Maud M; Labasse, Clemence C; Madelaine, Angeline A; Malfatti, Edoardo E; Bevilacqua, Jorge Alfredo JA; Lubieniecki, Fabiana F; Monges, Soledad S; Taratuto, Ana Lia AL; Laporte, Jocelyn J; Marty, Isabelle I; Antonini, Giovanni G; Romero, Norma Beatriz NB

Publication Date: 2019-01-05

Variant appearance in text: RYR1: 10561G>T; Gly3521Cys

PubMed Link: 30611313

Variant Present in the following documents:

• Main text
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 2
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 8
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 7
• 40478_2018_Article_655.pdf
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 6
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page