Detalhe da pesquisa
1.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet
; 110(9): 1454-1469, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595579
2.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Am J Hum Genet
; 109(11): 2049-2067, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36283406
3.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 109(10): 1789-1813, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152629
4.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 111(3): 619, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458168
5.
Loss of LDAH associated with prostate cancer and hearing loss.
Hum Mol Genet
; 27(24): 4194-4203, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30169630
6.
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Proc Natl Acad Sci U S A
; 113(21): 5993-8, 2016 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27162350
7.
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
Am J Hum Genet
; 94(5): 695-709, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24746958
8.
Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss.
Hum Mol Genet
; 28(10): 1753-1754, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222336
9.
Wastewater based surveillance can be used to reduce clinical testing intensity on a university campus.
Sci Total Environ
; 918: 170452, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296085
10.
The conserved tetrameric subunit stoichiometry of Slc26 proteins.
Microsc Microanal
; 19(4): 799-807, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23642772
11.
Expanding a Wastewater-Based Surveillance Methodology for DNA Isolation from a Workflow Optimized for SARS-CoV-2 RNA Quantification.
J Biomol Tech
; 34(4)2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38268997
12.
Correlative analysis of wastewater trends with clinical cases and hospitalizations through five dominant variant waves of COVID-19.
ACS ES T Water
; 3(9): 2849-2862, 2023 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38487696
13.
Comparison of Electronegative Filtration to Magnetic Bead-Based Concentration and V2G-qPCR to RT-qPCR for Quantifying Viral SARS-CoV-2 RNA from Wastewater.
ACS ES T Water
; 2(11): 2004-2013, 2022 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37601294
14.
Relationships between SARS-CoV-2 in Wastewater and COVID-19 Clinical Cases and Hospitalizations, with and without Normalization against Indicators of Human Waste.
ACS ES T Water
; 2(11): 1992-2003, 2022 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36398131
15.
Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries.
Methods Mol Biol
; 1885: 251-265, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30506203
16.
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.
Science
; 362(6420)2018 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30545852
17.
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
Nat Genet
; 50(5): 727-736, 2018 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29700473
18.
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Genome Biol
; 18(1): 36, 2017 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28260531
19.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Nat Genet
; 49(1): 36-45, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27841880
20.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet
; 49(2): 238-248, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28067909