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

Results: 11

Case report: 16-yr life history and genomic evolution of an ER<sup>+</sup> HER2<sup>-</sup> breast cancer.

Published in:

2020

By:

Bing Xu;
Amallraja, Anu;
Swaminathan, Padmapriya;
Elsey, Rachel;
Davis, Christel;
Theel, Stephanie;
Viet, Sarah;
Petersen, Jason;
Krie, Amy;
Davies, Gareth;
Williams, Casey B.;
Ehli, Erik;
Meißner, Tobias

Publication type:

Case Study

Treatment response and tumor evolution: lessons from an extended series of multi-analyte liquid biopsies in a metastatic breast cancer patient.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005819

By:

Welter, Lisa;
Liya Xu;
McKinley, Dillon;
Dago, Angel E.;
Prabakar, Rishvanth K.;
Restrepo-Vassalli, Sara;
Kevin Xu;
Rodriguez-Lee, Mariam;
Kolatkar, Anand;
Nevarez, Rafael;
Ruiz, Carmen;
Nieva, Jorge;
Kuhn, Peter;
Hicks, James

Publication type:

Article

Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005728

By:

Tidwell, Timothy;
Deshotel, Malia;
Palumbos, Janice;
Miller, Chris;
Bayrak-Toydemir, Pinar;
Carey, John C.

Publication type:

Article

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005769

By:

Sklarz, Tammarah;
Hurwitz, Stephanie N.;
Stanley, Natasha L.;
Juusola, Jane;
Bagg, Adam;
Babushok, Daria

Publication type:

Article

Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005496

By:

Savage, Lane;
Adams, Stacie D.;
James, Kiely;
Chowdhury, Shimul;
Rajasekaran, Surender;
Prokop, Jeremy W.;
Bupp, Caleb

Publication type:

Article

Prolonged survival and response to tepotinib in a non-small-cell lung cancer patient with brain metastases harboring MET exon 14 mutation: a research report.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005785

By:

Roth, Katherine G.;
Mambetsariev, Isa;
Salgia, Ravi

Publication type:

Article

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005884

By:

Osei-Owusu, Ikeoluwa A.;
Norris, Alexis L.;
Joynt, Anya T.;
Thorpe, Jeremy;
Soonweng Cho;
Tierney, Elaine;
Schmidt, Jonathan;
Hagopian, Louis;
Harris, Jacqueline;
Pevsner, Jonathan

Publication type:

Article

Isolated sulfite oxidase deficiency: a founder mutation.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005900

By:

Mhanni, Aizeddin A.;
Greenberg, Cheryl R.;
Spriggs, Elizabeth L.;
Agatep, Ronald;
Sisk, Reena Ray;
Prasad, Chitra

Publication type:

Article

Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005595

By:

Lach, Francis P.;
Singh, Sonia;
Rickman, Kimberly A.;
Ruiz, Penelope D.;
Noonan, Raymond J.;
Hymes, Kenneth B.;
DeLacure, Mark D.;
Kennedy, Jennifer A.;
Chandrasekharappa, Settara C.;
Smogorzewska, Agata

Publication type:

Article

Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors.

Published in:: Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005710
Publication type:: Article

NAA10 variant in 38-week-gestation male patient: a case study.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005868

By:

Afrin, Antara;
Prokop, Jeremy W.;
Underwood, Adam;
Uhl, Katie L.;
Van Sickle, Elizabeth A.;
Baruwal, Roja;
Wajda, Morgan;
Rajasekaran, Surender;
Bupp, Caleb

Publication type:

Article