Detalhe da pesquisa
1.
Exploring the feasibility and utility of exome-scale tumour sequencing in a clinical setting.
Intern Med J
; 48(7): 786-794, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29607586
2.
BRAF Inhibition in BRAFV600E-Positive Anaplastic Thyroid Carcinoma.
J Natl Compr Canc Netw
; 14(3): 249-54, 2016 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26957611
3.
AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.
Hum Mutat
; 36(4): 411-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25664426
4.
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
Am J Hum Genet
; 91(3): 565-71, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22901946
5.
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Hum Mutat
; 35(4): 434-41, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24307375
6.
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Hum Mol Genet
; 21(4): 776-83, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22068589
7.
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Am J Hum Genet
; 89(3): 451-8, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21885028
8.
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Am J Hum Genet
; 89(3): 464-73, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21907015
9.
Accurately identifying low-allelic fraction variants in single samples with next-generation sequencing: applications in tumor subclone resolution.
Hum Mutat
; 34(10): 1432-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23766071
10.
Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics.
Hum Mutat
; 34(1): 248-54, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22915446
11.
Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.
Hum Mutat
; 34(7): 945-52, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23554237
12.
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Hum Mutat
; 33(8): 1175-81, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22553128
13.
Human Variome Project country nodes: documenting genetic information within a country.
Hum Mutat
; 33(11): 1513-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753370
14.
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
Am J Hum Genet
; 85(5): 737-44, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19896110
15.
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.
J Med Genet
; 48(2): 123-30, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21037276
16.
Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens.
Nucleic Acids Res
; 38(14): e151, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20525786
17.
Illuminator, a desktop program for mutation detection using short-read clonal sequencing.
Genomics
; 98(4): 302-9, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21621601
18.
Genetic diagnosis of familial breast cancer using clonal sequencing.
Hum Mutat
; 31(4): 484-91, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20127978
19.
Genetic and epigenetic analysis of recurrent hydatidiform mole.
Hum Mutat
; 30(5): E629-39, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19309689
20.
Clinical Utility of Real-Time Targeted Molecular Profiling in the Clinical Management of Ovarian Cancer: The ALLOCATE Study.
JCO Precis Oncol
; 3: 1-18, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35100705