• Mutation; HGNC; HGNC:171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Unspecified (PubMed=29674595).
  
• Mutation; HGNC; HGNC:4764; H3-3A; Simple; p.Lys28Met (c.83A>T) (H3.3K27M); ClinVar=VCV000376435; Zygosity=Unspecified (Patent=US20200384022; PubMed=29674595).
  
• Mutation; HGNC; HGNC:8975; PIK3CA; Simple; p.Glu39Lys (c.115G>A); Zygosity=Unspecified (PubMed=29674595).
  
• Mutation; HGNC; HGNC:8975; PIK3CA; Simple; p.Gly1007Arg (c.3019G>C); Zygosity=Unspecified (PubMed=29674595).
  
• Mutation; HGNC; HGNC:9277; PPM1D; Simple; p.Gln510fs (c.1529delA); Zygosity=Unspecified (PubMed=29674595).
  

PubMed=29674595; DOI=10.1126/science.aao4750; PMCID=PMC5949869
Mariella G. Filbin, Itay Tirosh, Volker Hovestadt, McKenzie L. Shaw, Leah E. Escalante, Nathan D. Mathewson, Cyril Neftel, Nelli Frank, Kristine Pelton, Christine M. Hebert, Christine Haberler ...Show all 49 authors... , Keren Yizhak, Johannes Gojo, Kristof Egervari, Christopher Mount, Peter van Galen, Dennis M. Bonal, Quang-De Nguyen, Alexander Beck, Claire Sinai, Thomas Czech, Christian Dorfer, Liliana Goumnerova, Cinzia Lavarino, Angel Montero Carcaboso, Jaume Mora, Ravindra Mylvaganam, Christina C. Luo, Andreas Peyrl, Mara Popovic, Amedeo A. Azizi, Tracy Todd Batchelor, Matthew P. Frosch, Maria Martinez-Lage, Mark W. Kieran, Pratiti Bandopadhayay, Rameen Beroukhim, Gerhard Fritsch, Gad Getz, Orit Rozenblatt-Rosen, Kai W. Wucherpfennig, David Neil Louis, Michelle Monje, Irene Slavc, Keith Lloyd Ligon, Todd Robert Golub, Aviv Regev, Bradley E. Bernstein, Mario L. Suva; Show fewer authors
Developmental and oncogenic programs in H3K27M gliomas dissected by single-cell RNA-seq.
Science 360:331-335(2018)

PubMed=29760046; DOI=10.1158/0008-5472.CAN-17-3691; PMCID=PMC6294442
Sharmistha Pal, David Kozono, Xiao-Dong Yang, Wojciech Fendler, Whitney Fitts, Jing Ni, John A. Alberta, Jean Zhao, Kevin Xin-Ye Liu, Jie Bian, Nathalene Truffaux ...Show all 19 authors... , William Andrew Weiss, Adam C. Resnick, Pratiti Bandopadhayay, Keith Lloyd Ligon, Steven Gary DuBois, Sabine Mueller, Dipanjan Chowdhury, Daphne Adele Haas-Kogan; Show fewer authors
Dual HDAC and PI3K inhibition abrogates NFkappaB- and FOXM1-mediated DNA damage response to radiosensitize pediatric high-grade gliomas.
Cancer Res. 78:4007-4021(2018)

Patent=US20200384022
Mario L. Suva, Bradley E. Bernstein, Aviv Regev, Mariella G. Filbin, Itay Tirosh, Volker Hovestadt;
Methods and compositions for targeting developmental and oncogenic programs in H3K27M gliomas.
Patent number US20200384022, 10-Dec-2020