Works matching IS 23732873 AND DT 2020 AND VI 6 AND IP 5

Results: 8

Diffuse midline glioma with novel, potentially targetable, FGFR2-VPS35 fusion.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005660

By:

Zanazzi, George;
Liechty, Benjamin L.;
Pendrick, Danielle;
Krasnozhen-Ratush, Olga;
Snuderl, Matija;
Allen, Jeffrey C.;
Garvin, James H.;
Mansukhani, Mahesh M.;
Roth, Kevin A.;
Hsiao, Susan J.

Publication type:

Article

Deciphering congenital anomalies for the next generation.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005504

By:

Wojcik, Monica H.;
Agrawal, Pankaj B.

Publication type:

Article

Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumors.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005678

By:

Nobuyuki Takahashi;
Rajapakse, Vinodh N.;
Pongor, Lorinc;
Kumar, Suresh;
Tlemsani, Camille;
Erwin-Cohen, Rebecca;
Young, Howard A.;
Hewitt, Stephen;
Wei, Jun S.;
Khan, Javed;
Villarino, Alejandro V.;
Trepel, Jane B.;
Thomas, Anish

Publication type:

Article

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005611

By:

Sanford, Erica;
Jones, Marilyn C.;
Brigger, Matthew;
Hammer, Monia;
Giudugli, Lucia;
Kingsmore, Stephen F.;
Dimmock, David;
Bainbridge, Matthew N.

Publication type:

Article

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005652

By:

Kamal, Lara;
Pierce, Sarah B.;
Canavati, Christina;
Rayyan, Amal Abu;
Jaraysa, Tamara;
Lobel, Orit;
Lolas, Suhair;
Norquist, Barbara M.;
Rabie, Grace;
Zahdeh, Fouad;
Levy-Lahad, Ephrat;
King, Mary-Claire;
Kanaan, Moien N.

Publication type:

Article

D/CERI-associated metastatic abdominopelvic primitive neuroectodermal tumor with an EWSR1 rearrangement in a 16-yr-old female.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005603

By:

Pancaldi, Alessia;
Lei Peng;
Rhee, Daniel S.;
Dunn, Emily;
Forcucci, Jessica A.;
Belchis, Deborah;
Pratilas, Christine A.

Publication type:

Article

Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005645

By:

Gupta, Ajay;
Belsky, Jennifer A.;
Schieffer, Kathleen M.;
Leraas, Kristen;
Varga, Elizabeth;
McGrath, Sean D.;
Koo, Selene C.;
Magrini, Vincent;
Wilson, Richard K.;
White, Peter;
Mardis, Elaine R.;
Jatana, Kris R.;
Cottrell, Catherine E.;
Setty, Bhuvana A.

Publication type:

Article

Diagnostic utility of genetic testing in patients undergoing renal biopsy.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005462

By:

Benson, Katherine A.;
Murray, Susan L.;
Doyle, Ross;
Doyle, Brendan;
Dorman, Anthony M.;
Sadlier, Denise;
Brennan, Eoin;
Large, Margaret;
Cavalleri, Gianpiero L.;
Godson, Catherine;
Conlon, Peter J.

Publication type:

Article