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Inhibition of X-Linked Inhibitor of Apoptosis with Embelin Differentially Affects Male versus Female Behavioral Outcome ...

Hill, C.A. Alexander, M.L. McCullough, L.D. Fitch, R.H.

Published in Developmental Neuroscience

Hypoxia-ischemia (HI; concurrent oxygen/blood deficiency) and associated encephalopathy represent a common cause of neurological injury in premature/low-birth-weight infants and term infants with birth complications. Resulting behavioral impairments include cognitive and/or sensory processing deficits, as well as language disabilities, and clinical...

Clinical Genome Sequencing

Green, Robert C. Rehm, Heidi L. Kohane, Isaac S.

Published in Genomic and Personalized Medicine

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Willer, Tobias Lee, Hane Lommel, Mark Yoshida-Moriguchi, Takako de Bernabe, Daniel Beltran Valero Venzke, David Cirak, Sebahattin Schachter, Harry Vajsar, Jiri Voit, Thomas ...

Published in Nature genetics

Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal post-translational processing of a-dystroglycan that share a defect in laminin-binding glycan synthe...

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

Lee, Hane Graham, John M. Jr. Rimoin, David L. Lachman, Ralph S. Krejci, Pavel Tompson, Stuart W. Nelson, Stanley F. Krakow, Deborah Cohn, Daniel H.

Published in The American Journal of Human Genetics

Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular basis of acrodysostosis, we performed exome sequencing on five genetically independent cases. Three different missense mutations in PDE4D, which encodes cyclic AMP (cAMP)-specific phosphodies...

Decitabine immunosensitizes human gliomas to NY-ESO-1 specific T lymphocyte targeting through the Fas/Fas Ligand pathway...

Konkankit, Veerauo V Kim, Won Koya, Richard C Eskin, Ascia Dam, Mai-Anh Nelson, Stanley Ribas, Antoni Liau, Linda M Prins, Robert M

Published in Journal of Translational Medicine

BackgroundThe lack of effective treatments for gliomas makes them a significant health problem and highlights the need for the development of novel and innovative treatment approaches. Immunotherapy is an appealing strategy because of the potential ability for immune cells to traffic to and destroy infiltrating tumor cells. However, the absence of ...

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study.

Palomaki, Glenn E Kloza, Edward M Lambert-Messerlian, Geralyn M Haddow, James E Neveux, Louis M Ehrich, Mathias van den Boom, Dirk Bombard, Allan T Deciu, Cosmin Grody, Wayne W ...

Published in Genetics in medicine : official journal of the American College of Medical Genetics

Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement. A blinded, nested case-control study was designed within a cohort of 4664 pregnancies at high risk for Down syndrome. Fetal karyotypin...

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes fo...

Anney, Richard J L Kenny, Elaine M O'Dushlaine, Colm Yaspan, Brian L Parkhomenka, Elena Buxbaum, Joseph D Sutcliffe, James Gill, Michael Gallagher, Louise Buxbaum, Joseph D ...

Published in European journal of human genetics : EJHG

Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies have yet to identify statistically robust, replicated major effect genes or SNPs. We apply the principle of the SNP ratio test meth...

The variant call format and VCFtools.

Danecek, Petr Auton, Adam Abecasis, Goncalo Albers, Cornelis A Banks, Eric DePristo, Mark A Handsaker, Robert E Lunter, Gerton Marth, Gabor T Sherry, Stephen T ...

Published in Bioinformatics (Oxford, England)

The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was develop...

Phenotype sequencing: identifying the genes that cause a phenotype directly from pooled sequencing of independent mutant...

Harper, Marc A Chen, Zugen Toy, Traci Machado, Iara M P Nelson, Stanley F Liao, James C Lee, Christopher J

Published in PloS one

Random mutagenesis and phenotype screening provide a powerful method for dissecting microbial functions, but their results can be laborious to analyze experimentally. Each mutant strain may contain 50-100 random mutations, necessitating extensive functional experiments to determine which one causes the selected phenotype. To solve this problem, we ...

SeqWare Query Engine: storing and searching sequence data in the cloud

O’Connor, Brian D Merriman, Barry Nelson, Stanley F

Published in BMC Bioinformatics

BackgroundSince the introduction of next-generation DNA sequencers the rapid increase in sequencer throughput, and associated drop in costs, has resulted in more than a dozen human genomes being resequenced over the last few years. These efforts are merely a prelude for a future in which genome resequencing will be commonplace for both biomedical r...

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