Detalhe da pesquisa
1.
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Cell
; 172(5): 897-909.e21, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474918
2.
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
3.
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
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
; 109(10): 1789-1813, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152629
5.
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Am J Hum Genet
; 108(11): 2145-2158, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34672987
6.
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
7.
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.
Hum Mol Genet
; 28(9): 1474-1486, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30590535
8.
High-Resolution and Noninvasive Fetal Exome Screening.
N Engl J Med
; 389(21): 2014-2016, 2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37991862
9.
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.
Mov Disord
; 36(1): 206-215, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32975318
10.
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
11.
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
12.
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
13.
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
14.
Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.
Cell Rep Methods
; 4(1): 100672, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091988
15.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Sci Rep
; 14(1): 570, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177237
16.
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
17.
The conserved tetrameric subunit stoichiometry of Slc26 proteins.
Microsc Microanal
; 19(4): 799-807, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23642772
18.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
bioRxiv
; 2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37808686
19.
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
20.
Geospatially-resolved public-health surveillance via wastewater sequencing.
medRxiv
; 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37398062