Detalhe da pesquisa
1.
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Am J Hum Genet
; 105(1): 213-220, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230721
2.
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Genet Med
; 21(1): 53-61, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100613
3.
The tissue-specific transcriptomic landscape of the mid-gestational mouse embryo.
Development
; 141(11): 2325-30, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24803591
4.
Retention of gene products in syncytial spermatids promotes non-Mendelian inheritance as revealed by the t complex responder.
Genes Dev
; 23(23): 2705-10, 2009 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19952105
5.
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.
Clin Genet
; 95(5): 631-633, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30791088
6.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Eur J Hum Genet
; 29(1): 141-153, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32860008
7.
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
J Neurol
; 267(3): 770-782, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31745726
8.
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
J Neurodev Disord
; 11(1): 11, 2019 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31238879
9.
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Eur J Hum Genet
; 25(2): 176-182, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27848944
10.
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Mol Genet Genomic Med
; 3(5): 396-403, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26436105
11.
Using the canary genome to decipher the evolution of hormone-sensitive gene regulation in seasonal singing birds.
Genome Biol
; 16: 19, 2015 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631560
12.
SRF is essential for mesodermal cell migration during elongation of the embryonic body axis.
Mech Dev
; 133: 23-35, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25020278
13.
The tissue-specific lncRNA Fendrr is an essential regulator of heart and body wall development in the mouse.
Dev Cell
; 24(2): 206-14, 2013 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23369715
14.
The Saccharomyces cerevisiae W303-K6001 cross-platform genome sequence: insights into ancestry and physiology of a laboratory mutt.
Open Biol
; 2(8): 120093, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22977733
15.
High-throughput sequencing of microdissected chromosomal regions.
Eur J Hum Genet
; 18(4): 457-62, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19888302
16.
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis.
PLoS One
; 5(12): e15661, 2010 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21203531
17.
Trace2PS and FSA2PS: two software toolkits for converting trace and fsa files to PostScript format.
Source Code Biol Med
; 4: 4, 2009 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-19622158
18.
Expression of Msgn1 in the presomitic mesoderm is controlled by synergism of WNT signalling and Tbx6.
EMBO Rep
; 8(8): 784-9, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17668009
19.
The basic helix-loop-helix transcription factor family in plants: a genome-wide study of protein structure and functional diversity.
Mol Biol Evol
; 20(5): 735-47, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12679534
20.
Two long-chain acyl-CoA synthetases from Arabidopsis thaliana involved in peroxisomal fatty acid beta-oxidation.
Plant J
; 32(1): 93-103, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12366803