Works matching IS 23732873 AND DT 2020 AND VI 6 AND IP 4

Results: 12

A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005397

By:

Yiming Zhong;
Schubert, Jeffrey;
Wu, Jinhua;
Feng Xu;
Fumin Lin;
Cao, Kajia;
Zelley, Kristin;
Minjie Luo;
Foster, Jessica B.;
Cole, Kristina A.;
MacFarland, Suzanne P.;
Resnick, Adam C.;
Storm, Phillip B.;
M. Li, Marilyn

Publication type:

Article

Failure of tofacitinib to achieve an objective response in a DDX3X-MLLT10 T-lymphoblastic leukemia with activating JAK3 mutations.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a004994

By:

Wong, Jonathan;
Wall, Meaghan;
Corboy, Gregory Philip;
Taubenheim, Nadine;
Gregory, Gareth Peter;
Opat, Stephen;
Shortt, Jake

Publication type:

Article

An amino-terminal BRAF deletion accounting for acquired resistance to RAF/EGFR inhibition in colorectal cancer.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005140

By:

Tung, Jack K.;
Neishaboori, Nastaran;
Haraldsdottir, Sigurdis;
Suarez, Carlos J.

Publication type:

Article

Dual inhibition of BRAF and mTOR in BRAF<sup>V600E</sup>-mutant pediatric, adolescent, and young adult brain tumors.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005041

By:

Sen, Shiraj;
Tanaka, Ryuma;
Khatua, Soumen;
Zaky, Wafik;
Janku, Filip;
Penas-Prado, Marta;
Weathers, Shiao-Pei;
Behrang, Amini;
Roszik, Jason;
Subbiah, Vivek

Publication type:

Article

Clinical utility of ultra-rapid wholegenome sequencing in an infant with atypical presentation of WT1- associated nephrotic syndrome type 4.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005470

By:

Sanford, Erica;
Wong, Terence;
Ellsworth, Katarzyna A.;
Ingulli, Elizabeth;
Kingsmore, Stephen F.

Publication type:

Article

TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a004796

By:

Moore, Colin;
Monforte, Hector;
Teer, Jamie K.;
Yonghong Zhang;
Yoder, Sean;
Brohl, Andrew S.;
Reed, Damon R.

Publication type:

Article

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005165

By:

Macke, Erica L.;
Morales-Rosado, Joel A.;
Gupta, Aditi;
Schmitz, Christopher T.;
Kruisselbrink, Teresa;
Lanpher, Brendan;
Klee, Eric W.

Publication type:

Article

Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein--Taybi syndromes: potential role of H3K27 modifications.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005058

By:

Gamu, Daniel;
Gibson, William T.

Publication type:

Article

Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005256

By:

Daboub, Josue A. Flores;
Grimmer, Johanes Fred;
Frigerio, Alice;
Wooderchak-Donahue, Whitney;
Arnold, Ryan;
Szymanski, Jeff;
Longo, Nicola;
Bayrak-Toydemir, Pinar

Publication type:

Article

SLC6A1 G443D associated with developmental delay and epilepsy.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005371

By:

Devries, Seth;
Mulder, Monica;
Charron, Jacob G.;
Prokop, Jeremy W.;
Mark, Paul R.

Publication type:

Article

Successful BRAF/MEK inhibition in a patient with BRAF<sup>V600E</sup>-mutated extrapancreatic acinar cell carcinoma.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005553

By:

Busch, Elena;
Kreutzfeldt, Simon;
Agaimy, Abbas;
Mechtersheimer, Gunhild;
Horak, Peter;
Brors, Benedikt;
Hutter, Barbara;
Fröhlich, Martina;
Uhrig, Sebastian;
Mayer, Philipp;
Schröck, Evelin;
Stenzinger, Albrecht;
Glimm, Hanno;
Jäger, Dirk;
Springfeld, Christoph;
Fröhling, Stefan;
Zschäbitz, Stefanie

Publication type:

Article

Functional genomic analysis identifies drug targetable pathways in invasive and metastatic cutaneous squamous cell carcinoma.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005439

By:

Anderson, Ashley N.;
McClanahan, Danielle;
Jacobs, James;
Jeng, Sophia;
Vigoda, Myles;
Blucher, Aurora S.;
Zheng, Christina;
Yeon Jung Yoo;
Hale, Carolyn;
Xiaoming Ouyang;
Clayburgh, Daniel;
Andersen, Peter;
Tyner, Jeffrey W.;
Bar, Anna;
Lucero, Olivia M.;
Leitenberger, Justin J.;
McWeeney, Shannon K.;
Kulesz-Martin, Molly

Publication type:

Article