Detalhe da pesquisa
1.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res
; 25(3): 305-15, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637381
2.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Nature
; 485(7397): 246-50, 2012 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22495309
3.
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Am J Hum Genet
; 94(2): 233-45, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24507775
4.
Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes.
Gastroenterology
; 151(3): 440-447.e1, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27302833
5.
Collaborative science to advance gene therapies in resource-limited parts of the world.
Mol Ther
; 29(11): 3101-3102, 2021 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34464598
6.
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
Hum Mol Genet
; 23(6): 1602-5, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24218363
7.
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Am J Hum Genet
; 92(4): 590-7, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23499310
8.
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Am J Hum Genet
; 92(4): 632-6, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23561849
9.
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Am J Hum Genet
; 92(1): 137-43, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273567
10.
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Am J Hum Genet
; 93(4): 631-40, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24055113
11.
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Am J Hum Genet
; 92(4): 621-6, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23541344
12.
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
Am J Hum Genet
; 92(1): 99-106, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261302
13.
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Am J Hum Genet
; 93(4): 711-20, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24055112
14.
The million mutation project: a new approach to genetics in Caenorhabditis elegans.
Genome Res
; 23(10): 1749-62, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23800452
15.
Improving performance of multigene panels for genomic analysis of cancer predisposition.
Genet Med
; 18(10): 974-81, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26845104
16.
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
Am J Hum Genet
; 91(4): 685-93, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23040496
17.
Targeted capture and massively parallel sequencing of 12 human exomes.
Nature
; 461(7261): 272-6, 2009 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19684571
18.
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee.
Genome Res
; 21(10): 1640-9, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21685127
19.
Microsatellite instability detection by next generation sequencing.
Clin Chem
; 60(9): 1192-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24987110
20.
Parallel, tag-directed assembly of locally derived short sequence reads.
Nat Methods
; 7(2): 119-22, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20081835