Detalhe da pesquisa
1.
Trastuzumab Deruxtecan in HER2-Mutant Non-Small-Cell Lung Cancer.
N Engl J Med
; 386(3): 241-251, 2022 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34534430
2.
Trastuzumab Deruxtecan in Previously Treated HER2-Low Advanced Breast Cancer.
N Engl J Med
; 387(1): 9-20, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35665782
3.
Clinical application of whole-exome sequencing across clinical indications.
Genet Med
; 18(7): 696-704, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633542
4.
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Am J Med Genet A
; 170(7): 1791-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27133397
5.
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
J Med Genet
; 52(11): 754-61, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264232
6.
Mutations in ARID2 are associated with intellectual disabilities.
Neurogenetics
; 16(4): 307-14, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26238514
7.
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Hum Genet
; 134(9): 967-80, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077850
8.
Analytical and clinical validation of PATHWAY Anti-HER-2/neu (4B5) antibody to assess HER2-low status for trastuzumab deruxtecan treatment in breast cancer.
Virchows Arch
; 2023 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37857998
9.
Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.
Genet Med
; 14(12): 990-1000, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22955113
10.
Presence of SPINK-1 variant alters the course of chronic pancreatitis.
J Gastroenterol Hepatol
; 26(6): 965-9, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21375584
11.
Reliable Gene Expression Profiling from Small and Hematoxylin and Eosin-Stained Clinical Formalin-Fixed, Paraffin-Embedded Specimens Using the HTG EdgeSeq Platform.
J Mol Diagn
; 21(5): 796-807, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31255795
12.
Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in Combination with Ipilimumab in Small-Cell Lung Cancer.
Cancer Cell
; 33(5): 853-861.e4, 2018 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29731394
13.
Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.
Cancer Cell
; 33(5): 843-852.e4, 2018 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29657128
14.
STK11/LKB1 Mutations and PD-1 Inhibitor Resistance in KRAS-Mutant Lung Adenocarcinoma.
Cancer Discov
; 8(7): 822-835, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29773717
15.
Insights into catalysis by a knotted TrmD tRNA methyltransferase.
J Mol Biol
; 333(5): 931-49, 2003 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-14583191
16.
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Cold Spring Harb Mol Case Stud
; 1(1): a000455, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148570
17.
Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.
J Mol Diagn
; 17(2): 107-17, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25684271
18.
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
Cold Spring Harb Mol Case Stud
; 1(1): a000562, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148574
19.
Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in Combination with Ipilimumab in Small-Cell Lung Cancer.
Cancer Cell
; 35(2): 329, 2019 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30753829