Works matching IS 23732873 AND DT 2021 AND VI 7 AND IP 1

Results: 7

Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005363

By:

Ing, Alexander;
Wlodaver, Alissa;
Kirschmann, Dawn;
Toledo, Erica;
McCabe, Christopher;
Kadri, Sabah;
McIntyre, Mary Kate;
Salazar, Joanne;
Firestein, Kristina;
Charrow, Joel;
Sanders, Victoria;
Laguna, Theresa;
Kai Lee Yap

Publication type:

Article

Refractory alveolar rhabdomyosarcoma in an 11-year-old male.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005983

By:

Ricker, Cora A.;
Woods, Andrew D.;
Simonson, William;
Lathara, Melvin;
Srinivasa, Ganapati;
Rudzinski, Erin R.;
Mansoor, Atiya;
Irwin, Robert G.;
Keller, Charles;
Berlow, Noah E.

Publication type:

Article

Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005801

By:

Pandya, Deep;
Shah, Myra;
Kaplan, Fuat;
Martino, Candice;
Levy, Gillian;
Kazanjian, Mia;
Batter, Stephen;
Martignetti, John;
Frank, Richard C.

Publication type:

Article

Identification of Leptotrichia goodfellowii infective endocarditis by next-generation sequencing of 16S rDNA amplicons.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005876

By:

Lieberman, Joshua A.;
Kyoko Kurosawa;
SenGupta, Dhruba;
Cookson, Brad T.;
Salipante, Stephen J.;
Busch, David

Publication type:

Article

Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005454

By:

Henslee, Gabrielle;
Williams, Christopher L.;
Pengfei Liu;
Bertuch, Alison A.

Publication type:

Article

Molecular insights into malignant progression of atypical choroid plexus papilloma.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005272

By:

Yankelevich, Maxim;
Finlay, Jonathan L.;
Gorsi, Hamza;
Kupsky, William;
Boue, Daniel R.;
Koschmann, Carl J.;
Kumar-Sinha, Chandan;
Mody, Rajen

Publication type:

Article

Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005934

By:

Burlet, Bénédicte;
Ramla, Selim;
Fournier, Cyril;
Abrey-Recalde, Maria Jimena;
Sauter, Camille;
Chrétien, Marie-Lorraine;
Rossi, Cédric;
Duffourd, Yannis;
Ragot, Sylviane;
Buriller, Céline;
Tournier, Benjamin;
Chapusot, Caroline;
Nadal, Nathalie;
Racine, Jessica;
Guy, Julien;
Bailly, François;
Martin, Laurent;
Casasnovas, Olivier;
Bastie, Jean-Noël;
Caillot, Denis

Publication type:

Article