Detalhe da pesquisa
1.
Estimation of DNA contamination and its sources in genotyped samples.
Genet Epidemiol
; 43(8): 980-995, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31452258
2.
Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.
PLoS Genet
; 9(2): e1003205, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23437000
3.
Evaluation of portability and cost of a fluorescent PCR ribotyping protocol for Clostridium difficile epidemiology.
J Clin Microbiol
; 53(4): 1192-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631804
4.
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
J Med Genet
; 49(12): 756-67, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188109
5.
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
PLoS Genet
; 5(1): e1000353, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165332
6.
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
J Am Soc Nephrol
; 22(10): 1815-20, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21903995
7.
Discovery of transcriptional regulators and signaling pathways in the developing pituitary gland by bioinformatic and genomic approaches.
Genomics
; 93(5): 449-60, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19121383
8.
Genetics, gene expression and bioinformatics of the pituitary gland.
Horm Res
; 71 Suppl 2: 101-15, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19407506
9.
Identification of the Genomic Insertion Site of the Thyroid Peroxidase Promoter-Cre Recombinase Transgene Using a Novel, Efficient, Next-Generation DNA Sequencing Method.
Thyroid
; 25(10): 1162-6, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179797
10.
Evaluation of commercially available RNA amplification kits for RNA sequencing using very low input amounts of total RNA.
J Biomol Tech
; 26(1): 4-18, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25649271
11.
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.
Eur J Hum Genet
; 23(7): 975-83, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25293720
12.
Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing.
Genetics
; 187(3): 675-83, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21212237
13.
Discovery of mutations in Saccharomyces cerevisiae by pooled linkage analysis and whole-genome sequencing.
Genetics
; 186(4): 1127-37, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20923977
14.
Genotyping of 73 UM-SCC head and neck squamous cell carcinoma cell lines.
Head Neck
; 32(4): 417-26, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19760794
15.
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Nat Genet
; 42(10): 840-50, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20835237
16.
Tissue-preserving approach to extracting DNA from paraffin-embedded specimens using tissue microarray technology.
Head Neck
; 29(5): 465-71, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17252596
17.
Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.
Mamm Genome
; 18(6-7): 521-37, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17557180
18.
Genetic variation in C57BL/6 ES cell lines and genetic instability in the Bruce4 C57BL/6 ES cell line.
Mamm Genome
; 18(8): 549-58, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17828574
19.
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
Am J Hum Genet
; 70(6): 1545-54, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11992260