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

Results: 12

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
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
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
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
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
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
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
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
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