Detalhe da pesquisa
1.
Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine.
Genes Chromosomes Cancer
; 61(6): 303-313, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331337
2.
Germline testing for homologous recombination repair genes-opportunities and challenges.
Genes Chromosomes Cancer
; 60(5): 332-343, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33078493
3.
Germ cell mosaicism for AUTS2 exon 6 deletion.
Am J Med Genet A
; 185(4): 1261-1265, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33577136
4.
Germline SDHB-inactivating mutation in gastric spindle cell sarcoma.
Genes Chromosomes Cancer
; 59(10): 601-608, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32501622
5.
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Genet Med
; 21(3): 705-717, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30050099
6.
Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.
BMC Cancer
; 19(1): 396, 2019 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31029168
7.
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Am J Med Genet A
; 173(9): 2545-2550, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777483
8.
A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another.
Breast Cancer Res Treat
; 167(1): 305-307, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900739
9.
CATCH: A Prospective Precision Oncology Trial in Metastatic Breast Cancer.
JCO Precis Oncol
; 52021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34036222
10.
Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers.
Cancer Discov
; 11(11): 2780-2795, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34112699
11.
Acute Stanford type B aortic dissection-who benefits from genetic testing?
J Thorac Dis
; 12(11): 6806-6812, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33282382
12.
Correction: Diagnostic value of partial exome sequencing in developmental disorders.
PLoS One
; 15(9): e0239959, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32970766
13.
Targetable ERBB2 mutations identified in neurofibroma/schwannoma hybrid nerve sheath tumors.
J Clin Invest
; 130(5): 2488-2495, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32017710
14.
The landscape of chromothripsis across adult cancer types.
Nat Commun
; 11(1): 2320, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385320
15.
Novel truncating PPM1D mutation in a patient with intellectual disability.
Eur J Med Genet
; 62(1): 70-72, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758292
16.
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Cancers (Basel)
; 11(6)2019 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31212687
17.
Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.
Cold Spring Harb Mol Case Stud
; 5(2)2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30833416
18.
Synergistic Highly Potent Targeted Drug Combinations in Different Pheochromocytoma Models Including Human Tumor Cultures.
Endocrinology
; 160(11): 2600-2617, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31322702
19.
Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
Nat Commun
; 10(1): 1635, 2019 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30967556
20.
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.
Eur J Endocrinol
; 178(2): K1-K9, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29158289