Detalhe da pesquisa
1.
Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease.
Blood
; 132(9): 948-961, 2018 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967129
2.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Genet Med
; 20(12): 1554-1563, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543227
3.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet
; 94(2): 209-22, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462369
4.
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Hum Mol Genet
; 22(22): 4460-73, 2013 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23814038
5.
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Brain Commun
; 6(2): fcae056, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444904
6.
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
BMJ Open
; 13(6): e072999, 2023 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270192
7.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
J Pers Med
; 12(11)2022 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579509
8.
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
Eur J Hum Genet
; 27(12): 1791-1799, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31320747
9.
ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure.
Blood Adv
; 1(18): 1369-1381, 2017 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29296778