Detalhe da pesquisa
1.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30827497
2.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Genet Med
; 21(1): 195-206, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29915382
3.
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Genet Med
; 21(1): 262-265, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30097611
4.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Genet Med
; 21(1): 233-242, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29907798
5.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(5): 1007, 2019 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31051109
6.
Supercomputing for the parallelization of whole genome analysis.
Bioinformatics
; 30(11): 1508-13, 2014 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24526712
7.
Developing OCHROdb, a comprehensive quality checked database of open chromatin regions from sequencing data.
Sci Rep
; 13(1): 8106, 2023 05 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37202401
8.
A computational genomics pipeline for prokaryotic sequencing projects.
Bioinformatics
; 26(15): 1819-26, 2010 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20519285
9.
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.
J Clin Oncol
; 36(28): 2863-2871, 2018 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30113886
10.
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
Circ Cardiovasc Genet
; 7(6): 751-759, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25179549
11.
Neisseria Base: a comparative genomics database for Neisseria meningitidis.
Database (Oxford)
; 2011: bar035, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21930505