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

Results: 12

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

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

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

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

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

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

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

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