Works matching IS 23732873 AND DT 2022 AND VI 8 AND IP 3

Results: 12

A novel TP53 tandem duplication in a child with Li--Fraumeni syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006181
By:
- Feng Xu;
- Eshghi, Erfan Aref;
- Jinhua Wu;
- Schubert, Jeffrey;
- Wertheim, Gerald;
- Bhatti, Tricia;
- Pogoriler, Jennifer;
- Patel, Maha;
- Kajia Cao;
- Ariel Long;
- Zhiqian Fan;
- Denenberg, Elizabeth H.;
- Fanning, Elizabeth A.;
- Wilmoth, Donna M.;
- Minjie Luo;
- Conlin, Laura K.;
- Dain, Aleksandra S.;
- Zelley, Kristin;
- Baldino, Sarah;
- Balamuth, Naomi
Publication type:
Article
Computational and experimental methods for classifying variants of unknown clinical significance.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006196
By:
- Spielmann, Malte;
- Kircher, Martin
Publication type:
Article
Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006167
By:
- Rosenzweig, Jaclyn;
- Pillai, Pallavi M.;
- Prockop, Susan;
- Benayed, Ryma;
- Brodersen, Lisa Eidenschink;
- Najfeld, Vesna;
- Loken, Michael R.;
- Yanming Zhang;
- Shukla, Neerav
Publication type:
Article
Tuberous sclerosis complex: a complex case.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006182
By:
- Powell, Ryan M.;
- Pattison, Sharon;
- Moravec, Jiri C.;
- Bhat, Basharat;
- Guirguis, Nada;
- Markie, David;
- Jones, Greg T.;
- Copedo, Jason;
- Print, Cristin G.;
- Morison, Ian M.;
- Gavryushkin, Alex;
- Gray, Bronwyn;
- Wyeth, Lisa J.;
- Eccles, Mike R.;
- Macaulay, Erin C.
Publication type:
Article
Prolonged response to checkpoint inhibitor therapy in two metastatic mucoepidermoid salivary gland carcinoma cases: a research report.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006189
By:
- Pharaon, Rebecca R.;
- Gernon, Thomas;
- Sue Chang;
- Vora, Nayana;
- Villaflor, Victoria M.;
- Bell, Diana;
- Afkhami, Michelle;
- Amini, Arya;
- Sampath, Sagus;
- Kang, Robert;
- Maghami, Ellie G.;
- Massarelli, Erminia
Publication type:
Article
A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006168
By:
- Miltiadous, Andri;
- Demetriou, Philippos;
- Kyriakou, Maria;
- Gerasimou, Petroula;
- Herodotou, George;
- Elpidoforou, Agathi;
- Kyprianou, Yiannos;
- Iacovou, Maria;
- Jianxiang Chi;
- Costeas, Paul;
- Tanteles, George A.
Publication type:
Article
Whole-genome and transcriptome analysis of advanced adrenocortical cancer highlights multiple alterations affecting epigenome and DNA repair pathways.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006148
By:
- Lavoie, Jean-Michel;
- Csizmok, Veronika;
- Williamson, Laura M.;
- Culibrk, Luka;
- Gang Wang;
- Marra, Marco A.;
- Laskin, Janessa;
- Jones, Steven J. M.;
- Renouf, Daniel J.;
- Kollmannsberger, Christian K.
Publication type:
Article
Corrigendum: Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.
Published in:
2022
By:
- Choo, Florence;
- Odintsov, Igor;
- Nusser, Kevin;
- Nicholson, Katelyn;
- Davis, Lara;
- Corless, Christopher L.;
- Stork, Linda;
- Somwar, Romel;
- Ladanyi, Marc;
- Davis, Jessica L.;
- Davare, Monika A.
Publication type:
Correction Notice
The utility of cerebrospinal fluid-- derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006188
By:
- Wei-Liang Chen;
- Emily Pao;
- Owens, James;
- Glass, Ian;
- Pritchard, Colin;
- Shirts, Brain H.;
- Lockwood, Christina;
- Mirzaa, Ghayda M.
Publication type:
Article
Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006203
By:
- Bell, Hannah N.;
- Kumar-Sinha, Chandan;
- Mannan, Rahul;
- Zakalik, Dana;
- Yuping Zhang;
- Mehra, Rohit;
- Jagtap, Deepa;
- Dhanasekaran, Saravana M.;
- Vaishampayan, Ulka
Publication type:
Article
Tumor-immune microenvironment revealed by Imaging Mass Cytometry in a metastatic sarcomatoid urothelial carcinoma with a prolonged response to pembrolizumab.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006151
By:
- Alnajar, Hussein;
- Ravichandran, Hiranmayi;
- Rendeiro, André Figueiredo;
- Ohara, Kentaro;
- Zoughbi, Wael Al;
- Manohar, Jyothi;
- Greco, Noah;
- Sigouros, Michael;
- Fox, Jesse;
- Muth, Emily;
- Angiuoli, Samuel;
- Faltas, Bishoy;
- Shusterman, Michael;
- Sternberg, Cora N.;
- Elemento, Olivier;
- Mosquera, Juan Miguel
Publication type:
Article
Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report.
Published in:
2022
By:
- Ball, Markus;
- Christopoulos, Petros;
- Kirchner, Martina;
- Allgäuer, Michael;
- Brandt, Regine;
- Winter, Hauke;
- Heußel, Claus Peter;
- Herth, Felix;
- Fröhling, Stefan;
- Savai, Rajkumar;
- Kriegsmann, Mark;
- Schirmacher, Peter;
- Peters, Solange;
- Thomas, Michael;
- Stenzinger, Albrecht;
- Kazdal, Daniel
Publication type:
Case Study