Detalhe da pesquisa
1.
Clinical utility of whole-genome sequencing in precision oncology.
Semin Cancer Biol
; 84: 32-39, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34175442
2.
Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia.
Blood
; 137(20): 2800-2816, 2021 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33206936
3.
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Genet Med
; 22(1): 85-94, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358947
4.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
5.
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.
Br J Haematol
; 182(3): 412-417, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808933
6.
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Genet Med
; 20(10): 1196-1205, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388947
7.
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Br J Haematol
; 175(2): 318-330, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27432187
8.
The poor outcome in high molecular risk, hydroxycarbamide-resistant/intolerant ET is not ameliorated by ruxolitinib.
Blood
; 134(23): 2107-2111, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578205
9.
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.
Blood
; 123(7): 1021-31, 2014 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24335234
10.
Sequence analysis of exon 1 of the ferritin light chain (FTL) gene can reveal the rare disorder 'hereditary hyperferritinaemia without cataracts'.
Br J Haematol
; 184(6): 1037-1040, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797321
11.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome Med
; 15(1): 94, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946251
12.
Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
Haematologica
; 97(3): 340-3, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22102705
13.
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.
Circ Genom Precis Med
; 15(1): e003589, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949103
14.
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.
Nat Genet
; 54(11): 1675-1689, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333502
15.
Validation of clinical-grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly-diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project.
EJHaem
; 2(4): 809-812, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35845211
16.
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.
Sci Rep
; 11(1): 6408, 2021 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742045
17.
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Sci Adv
; 7(49): eabj9247, 2021 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34860543
18.
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Nat Commun
; 12(1): 1626, 2021 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33712616
19.
Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.
Ann Hematol
; 89(12): 1215-21, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20567827
20.
Characterization of a novel deletion causing beta-thalassemia major in an Afghan family.
Hemoglobin
; 34(1): 110-4, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20113295