Detalhe da pesquisa
1.
Loss of δ-catenin function in severe autism.
Nature
; 520(7545): 51-6, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25807484
2.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Am J Hum Genet
; 96(5): 784-96, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25937446
3.
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Nature
; 485(7398): 363-7, 2012 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22596160
4.
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex.
Nature
; 473(7345): 92-6, 2011 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21471969
5.
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.
PLoS Genet
; 10(5): e1004372, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24875647
6.
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Proc Natl Acad Sci U S A
; 110(40): 16139-44, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24043777
7.
A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.
J Am Soc Nephrol
; 26(4): 831-43, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25145932
8.
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
Am J Hum Genet
; 90(3): 533-9, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22341973
9.
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
Am J Hum Genet
; 91(6): 1122-7, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159249
10.
Cilia in vertebrate development and disease.
Development
; 139(3): 443-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22223675
11.
Development and plasticity of outer retinal circuitry following genetic removal of horizontal cells.
J Neurosci
; 33(45): 17847-62, 2013 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24198374
12.
Context-dependent regulation of Wnt signaling through the primary cilium.
J Am Soc Nephrol
; 24(1): 10-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23123400
13.
Detecting time-varying genetic effects in Alzheimer's disease using a longitudinal genome-wide association studies model.
Alzheimers Dement (Amst)
; 16(2): e12597, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38855650
14.
RETROSPECTIVE VARYING COEFFICIENT ASSOCIATION ANALYSIS OF LONGITUDINAL BINARY TRAITS: APPLICATION TO THE IDENTIFICATION OF GENETIC LOCI ASSOCIATED WITH HYPERTENSION.
Ann Appl Stat
; 18(1): 487-505, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38577266
15.
Spatial and Temporal Drug Usage Patterns in Wastewater Correlate with Socioeconomic and Demographic Indicators in Southern Nevada.
medRxiv
; 2024 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352613
16.
Science Education for the Youth (SEFTY): A Neuroscience Outreach Program for High School Students in Southern Nevada During the COVID-19 Pandemic.
bioRxiv
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370644
17.
Science Education for the Youth (SEFTY): A Neuroscience Outreach Program for High School Students in Southern Nevada during the COVID-19 Pandemic.
eNeuro
; 11(4)2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527805
18.
Environmental Surveillance of Flood Control Infrastructure Impacted by Unsheltered Individuals Leads to the Detection of SARS-CoV-2 and Novel Mutations in the Spike Gene.
Environ Sci Technol Lett
; 11(5): 410-417, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38752195
19.
Early Detection of Novel SARS-CoV-2 Variants from Urban and Rural Wastewater through Genome Sequencing and Machine Learning.
medRxiv
; 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38699326
20.
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Proc Natl Acad Sci U S A
; 107(23): 10602-7, 2010 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20498079