Stanley Nelson

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
    Samuel P Strom
    Jules Stein Eye Institute, University of California Los Angeles, 200 Stein Plaza, Los Angeles, CA 90095, USA
    BMC Med Genet 13:67. 2012
  2. pmc Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia
    Vivian Y Chang
    Department of Pediatrics, Division of Hematology Oncology, University of California, Los Angeles, MDCC A2 410, Los Angeles, CA 90095, USA
    BMC Cancer 13:55. 2013
  3. pmc Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA
    Nils Homer
    Department of Computer Science, University of California, Los Angeles, Boelter Hall, Los Angeles, CA 90095, USA
    Genome Biol 11:R99. 2010
  4. pmc Celsius: a community resource for Affymetrix microarray data
    Allen Day
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, 90095, USA
    Genome Biol 8:R112. 2007
  5. pmc Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networks
    Marc R J Carlson
    Gonda Goldschmied Neuroscience and Genetics Research Center, Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095 7088, USA
    BMC Genomics 7:40. 2006
  6. pmc Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    BMC Genomics 8:165. 2007
  7. pmc Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    BMC Genomics 10:646. 2009
  8. pmc Expression profile of CREB knockdown in myeloid leukemia cells
    Matteo Pellegrini
    Department of Molecular, Cellular, and Developmental Biology, University of California, Los Angeles, USA
    BMC Cancer 8:264. 2008
  9. pmc SeqWare Query Engine: storing and searching sequence data in the cloud
    Brian D O'Connor
    UNC Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA
    BMC Bioinformatics 11:S2. 2010
  10. pmc Local alignment of two-base encoded DNA sequence
    Nils Homer
    Department of Computer Science, University of California Los Angeles, Los Angeles, California 90095, USA
    BMC Bioinformatics 10:175. 2009

Research Grants

  1. SNP studies in ADHD linked regions
    Stanley Nelson; Fiscal Year: 2009
  2. SNP studies in ADHD linked regions
    Stanley Nelson; Fiscal Year: 2007
  3. UCLA NINDS/NIMH Microarray Center
    Stanley Nelson; Fiscal Year: 2007
  4. UCLA NHLBI Shared Microarray Facilities
    Stanley Nelson; Fiscal Year: 2005
  5. UCLA NINDS/NIMH Microarray Center
    Stanley Nelson; Fiscal Year: 2004
  6. GENE EXPRESSION BASED CLASSIFICATION OF GLIAL TUMORS
    Stanley Nelson; Fiscal Year: 2004
  7. SNP studies in ADHD linked regions
    Stanley F Nelson; Fiscal Year: 2010

Detail Information

Publications81

  1. pmc Molecular diagnosis of putative Stargardt Disease probands by exome sequencing
    Samuel P Strom
    Jules Stein Eye Institute, University of California Los Angeles, 200 Stein Plaza, Los Angeles, CA 90095, USA
    BMC Med Genet 13:67. 2012
    ..However, high phenotypic and allelic heterogeneity and a small but non-trivial amount of locus heterogeneity currently impede conclusive molecular diagnosis in a significant proportion of cases...
  2. pmc Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia
    Vivian Y Chang
    Department of Pediatrics, Division of Hematology Oncology, University of California, Los Angeles, MDCC A2 410, Los Angeles, CA 90095, USA
    BMC Cancer 13:55. 2013
    ....
  3. pmc Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA
    Nils Homer
    Department of Computer Science, University of California, Los Angeles, Boelter Hall, Los Angeles, CA 90095, USA
    Genome Biol 11:R99. 2010
    ..A novel short-read micro realigner, SRMA, that leverages this correlation to better resolve a consensus of the underlying DNA sequence of the targeted genome is described here...
  4. pmc Celsius: a community resource for Affymetrix microarray data
    Allen Day
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, 90095, USA
    Genome Biol 8:R112. 2007
    ..It is the largest publicly available source of Affymetrix microarray data, and through sheer volume it allows a sophisticated, broad view of transcription that has not previously been possible...
  5. pmc Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networks
    Marc R J Carlson
    Gonda Goldschmied Neuroscience and Genetics Research Center, Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095 7088, USA
    BMC Genomics 7:40. 2006
    ..Highly connected hub proteins, largely responsible for maintaining network connectivity, have been found to be much more likely to be essential for yeast survival...
  6. pmc Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    BMC Genomics 8:165. 2007
    ....
  7. pmc Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    BMC Genomics 10:646. 2009
    ..This approach is being used by our group and others routinely and we are continuing to improve its performance...
  8. pmc Expression profile of CREB knockdown in myeloid leukemia cells
    Matteo Pellegrini
    Department of Molecular, Cellular, and Developmental Biology, University of California, Los Angeles, USA
    BMC Cancer 8:264. 2008
    ..CREB knockdown inhibits leukemic cell proliferation in vitro and in vivo, but does not affect long-term hematopoietic reconstitution...
  9. pmc SeqWare Query Engine: storing and searching sequence data in the cloud
    Brian D O'Connor
    UNC Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA
    BMC Bioinformatics 11:S2. 2010
    ..The advent of cloud computing, and a variety of powerful tools designed to process petascale datasets, provide a compelling solution to these ever increasing demands...
  10. pmc Local alignment of two-base encoded DNA sequence
    Nils Homer
    Department of Computer Science, University of California Los Angeles, Los Angeles, California 90095, USA
    BMC Bioinformatics 10:175. 2009
    ..The decoding is deterministic, but the possibility of measurement errors requires searching among all possible error modes and resulting alignments to achieve an optimal balance of fewer errors versus greater sequence similarity...
  11. pmc Local alignment of generalized k-base encoded DNA sequence
    Nils Homer
    Department of Computer Science, University of California Los Angeles, Los Angeles, California 90095, USA
    BMC Bioinformatics 11:347. 2010
    ..The encoded DNA sequence may contain technical errors, and therefore encoded sequencing errors must be incorporated when comparing an encoded DNA sequence to a reference DNA sequence...
  12. ncbi request reprint Association of progesterone receptor with migraine-associated vertigo
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Neurogenetics 8:195-200. 2007
    ..0007). Two SNPs (rs2228480 and rs1801132) within ESR1 demonstrated no significant association. No synergistic effect between ESR1 variants and PGR variants was identified...
  13. pmc Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder
    Ake T Lu
    Department of Human Genetics, University of California, Los Angeles, California, USA
    Am J Med Genet B Neuropsychiatr Genet 147:1488-94. 2008
    ..01 for C-G). These observations require replication, however, they suggest that the CNR1 gene may be a risk factor for ADHD and possibly PTSD, and that this gene warrants further investigation for a role in neuropsychiatric disorders...
  14. pmc Molecular properties of CD133+ glioblastoma stem cells derived from treatment-refractory recurrent brain tumors
    Qinghai Liu
    Department of Medicine, Division of Hematology Oncology, David Geffen School of Medicine, University of California Los Angeles, Factor Building, Rm 13 260, 10833 Le Conte Avenue, Los Angeles, CA 90095, USA
    J Neurooncol 94:1-19. 2009
    ..Identifying intrinsic and extrinsic cues, which promote CD133+ GBM cell self-renewal and PCD to support ongoing tumor regeneration may highlight novel therapeutic strategies to greatly diminish the recurrence rate of GBM...
  15. ncbi request reprint Gene expression profiling identifies molecular subtypes of gliomas
    Ruty Shai
    Department of Human Genetics, Henry E Singleton Brain Tumor Program, UCLA School of Medicine, Los Angeles, CA 90095, USA
    Oncogene 22:4918-23. 2003
    ..These results further define molecular subsets of gliomas which may potentially be used for patient stratification, and suggest potential targets for treatment...
  16. ncbi request reprint Relationship between survival and edema in malignant gliomas: role of vascular endothelial growth factor and neuronal pentraxin 2
    Marc R J Carlson
    Department of Human Genetics, University of California at Los Angeles and David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California 90095 1271, USA
    Clin Cancer Res 13:2592-8. 2007
    ..VEGF inhibition reduces edema and tumor burden in some patients with malignant glioma, whereas others show no response. The role of VEGF expression in edema production and the relationship to survival is not well understood...
  17. pmc BFAST: an alignment tool for large scale genome resequencing
    Nils Homer
    Department of Computer Science, University of California Los Angeles, Los Angeles, CA, USA
    PLoS ONE 4:e7767. 2009
    ..Speed is obviously of great importance, but equally important is maintaining alignment accuracy of short reads, in the 25-100 base range, in the presence of errors and true biological variation...
  18. pmc Stem cell associated gene expression in glioblastoma multiforme: relationship to survival and the subventricular zone
    Melanie Kappadakunnel
    University of California Los Angeles, Los Angeles, CA 90095, USA
    J Neurooncol 96:359-67. 2010
    ..More research is required to clarify the relationship between the SVZ, cancer stem cells and survival...
  19. pmc Phenotypic and genetic analysis of a large family with migraine-associated vertigo
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Headache 48:1460-7. 2008
    ..To describe a large multigenerational family with migraine-associated vertigo (MAV) combining a detailed phenotypic and genetic analysis...
  20. pmc Familial clustering and DRD4 effects on electroencephalogram measures in multiplex families with attention deficit/hyperactivity disorder
    Sandra K Loo
    Semel Institute for Neuroscience and Human Behavior and David Geffen School of Medicine at the University of California, Los Angeles, CA 90095, USA
    J Am Acad Child Adolesc Psychiatry 49:368-77. 2010
    ....
  21. pmc CBCL pediatric bipolar disorder profile and ADHD: comorbidity and quantitative trait loci analysis
    James J McGough
    Division of Child and Adolescent Psychiatry, UCLA Semel Institute for Neuroscience and Human Behavior and David Geffen School of Medicine
    J Am Acad Child Adolesc Psychiatry 47:1151-7. 2008
    ..We used CBCL-PBD profiles to distinguish patterns of comorbidity and to search for quantitative trait loci in a genomewide scan in a sample of multiple affected ADHD sibling pairs...
  22. pmc Relationship between gene expression and enhancement in glioblastoma multiforme: exploratory DNA microarray analysis
    Whitney B Pope
    Department of Radiological Sciences, David Geffen School of Medicine at University of California Los Angeles UCLA Medical Center, 10833 Le Conte Ave, BL 428 CHS, Los Angeles, CA 90095 1721, USA
    Radiology 249:268-77. 2008
    ..To determine the difference in gene expression between completely versus incompletely enhancing glioblastoma multiforme (GBM)...
  23. pmc Identification of inflammatory gene modules based on variations of human endothelial cell responses to oxidized lipids
    Peter S Gargalovic
    Department of Medicine, University of California, Los Angeles, CA 90095, USA
    Proc Natl Acad Sci U S A 103:12741-6. 2006
    ....
  24. ncbi request reprint Primary glioblastomas express mesenchymal stem-like properties
    Cho Lea Tso
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Room 5506, 695 Young Drive South, Los Angeles, CA 90095, USA
    Mol Cancer Res 4:607-19. 2006
    ....
  25. ncbi request reprint Prevalence and psychiatric comorbidity of attention-deficit/hyperactivity disorder in an adolescent Finnish population
    Susan L Smalley
    Semel Institute, University of California, Los Angeles, CA 90095, USA
    J Am Acad Child Adolesc Psychiatry 46:1575-83. 2007
    ..The purpose of the study was to estimate the prevalence of attention-deficit/hyperactivity disorder (ADHD) and its clinical characteristics in the Northern Finland Birth Cohort 1986...
  26. pmc U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line
    Michael James Clark
    Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS Genet 6:e1000832. 2010
    ..The sequence analysis of U87MG provides an unparalleled level of mutational resolution compared to any cell line to date...
  27. pmc Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
    Maricela Alarcon
    UCLA Center for Autism Research and Treatment, Semel Institute of Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Am J Hum Genet 82:150-9. 2008
    ..Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures...
  28. ncbi request reprint Distinct transcription profiles of primary and secondary glioblastoma subgroups
    Cho Lea Tso
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA
    Cancer Res 66:159-67. 2006
    ..These data highlight that the development of gene pathway-targeted therapies may need to be specifically tailored to each subtype of glioblastoma...
  29. pmc Biomarkers to predict antidepressant response
    Andrew F Leuchter
    Semel Institute for Neuroscience and Human Behavior at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, CA 90024, USA
    Curr Psychiatry Rep 12:553-62. 2010
    ..Once such biomarkers are validated, they could form the basis of new paradigms for antidepressant treatment selection...
  30. ncbi request reprint Temperament and character profiles and the dopamine D4 receptor gene in ADHD
    Deborah E Lynn
    UCLA Department of Child and Adolescent Psychiatry, 10850 Wilshire Blvd, Suite 200, Los Angeles, CA 90024, USA
    Am J Psychiatry 162:906-13. 2005
    ..This study was designed to investigate the link among attention deficit hyperactivity disorder (ADHD) in adults, novelty-seeking temperament, and the 48-base pair (bp) dopamine D4 receptor (DRD4) gene variant...
  31. pmc Replication of autism linkage: fine-mapping peak at 17q21
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095 7088, USA
    Am J Hum Genet 76:1050-6. 2005
    ..Fine mapping at 2-centimorgan (cM) intervals in the combined sample of families with no affected females reveals a linkage peak at 66.85 cM, which places this locus at 17q21...
  32. pmc Evidence for sex-specific risk alleles in autism spectrum disorder
    Jennifer L Stone
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Am J Hum Genet 75:1117-23. 2004
    ..01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases...
  33. ncbi request reprint DNA-microarray analysis of brain cancer: molecular classification for therapy
    Paul S Mischel
    Department of Pathology and Laboratory Medicine, the Henry E Singleton Brain Cancer Research Program at the David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California 90095, USA
    Nat Rev Neurosci 5:782-92. 2004
    ..Here, we review the progress made so far in using DNA microarrays to optimize brain cancer therapy...
  34. pmc Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
    Joanna C Jen
    Department of Neurology, University of California, Los Angeles, CA 90095, USA
    Science 304:1509-13. 2004
    ..Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing...
  35. ncbi request reprint Robustness of gene expression profiling in glioma specimen samplings and derived cell lines
    Ruty Mehrian Shai
    Department of Human Genetics, UCLA Geffen School of Medicine, Los Angeles, CA 90095, USA
    Brain Res Mol Brain Res 136:99-103. 2005
    ..In general, the tumor cell lines vary greatly from the parental tissues and cluster more strongly with each other than the parental tissue. We select and examine the set of genes altered in expression to allow adaptation to cell culture...
  36. ncbi request reprint Gene expression profiling of gliomas strongly predicts survival
    William A Freije
    Department of Human Genetics, University of California at Los Angeles, Los Angeles, California 90095, USA
    Cancer Res 64:6503-10. 2004
    ....
  37. ncbi request reprint Molecular analysis of glioblastoma: pathway profiling and its implications for patient therapy
    Paul S Mischel
    Department of Pathology, University of California Los Angeles, Los Angeles, California 90095, USA
    Cancer Biol Ther 2:242-7. 2003
    ..Identifying biologically relevant molecular subsets of glioblastoma and detecting pathway profiles that can be used to guide patient therapy are likely to result in significant improvement in the survival of glioblastoma patients...
  38. ncbi request reprint Identification of molecular subtypes of glioblastoma by gene expression profiling
    Paul S Mischel
    Department of Pathology, UCLA School of Medicine, Los Angeles, CA 90095, USA
    Oncogene 22:2361-73. 2003
    ..These results define distinct molecular subtypes of GBMs that may be important in disease stratification, and in the discovery and assessment of GBM treatment strategies...
  39. pmc Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism
    Susan L Smalley
    Center for Neurobehavioral Genetics and Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles 90024USA
    Am J Hum Genet 71:959-63. 2002
    ..These findings suggest that variations in a gene on 16p13 may contribute to common deficits found in both ADHD and autism...
  40. doi request reprint Identification of candidate tumor oncogenes by integrative molecular analysis of choroidal melanoma fine-needle aspiration biopsy specimens
    Tara A McCannel
    Department of Ophthalmology, David Geffen School of Medicine at UCLA, Jules Stein Eye Institute, Los Angeles, CA 90095 7000, USA
    Arch Ophthalmol 128:1170-7. 2010
    ..To report integrative molecular analysis of choroidal melanoma fine-needle aspiration biopsy specimens to identify candidate tumor oncogenes...
  41. pmc Gene expression profile correlates with T-cell infiltration and relative survival in glioblastoma patients vaccinated with dendritic cell immunotherapy
    Robert M Prins
    Department of Neurosurgery, Brain Research Institute, the Jonsson Comprehensive Cancer Center, University of California Los Angeles, Los Angeles, California 90095 6901, USA
    Clin Cancer Res 17:1603-15. 2011
    ..Clinical and immune responses were monitored and correlated with tumor gene expression profiles...
  42. ncbi request reprint Loss of annexin A1 expression in human breast cancer detected by multiple high-throughput analyses
    Dejun Shen
    Gonda UCLA Breast Cancer Research Laboratory, Department of Surgery, Revlon UCLA Breast Center, University of California at Los Angeles, David Geffen School of Medicine, Los Angeles, CA 90095, USA
    Biochem Biophys Res Commun 326:218-27. 2005
    ..A distinctive loss of ANXA1 in breast cancer suggests its involvement in maintaining normal breast biology...
  43. ncbi request reprint FXR regulates organic solute transporters alpha and beta in the adrenal gland, kidney, and intestine
    Hans Lee
    Department of Biological Chemistry, University of California, Los Angeles, Los Angeles, CA 90095, USA
    J Lipid Res 47:201-14. 2006
    ..These results demonstrate that OSTalpha and OSTbeta are novel FXR target genes that are expressed in the adrenal gland, kidney, and intestine...
  44. pmc A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11
    Matthew N Ogdie
    Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA
    Am J Hum Genet 72:1268-79. 2003
    ..Interestingly, both regions, as well as 5p13, have been highlighted in genomewide scans for autism...
  45. pmc Proteinase and growth factor alterations revealed by gene microarray analysis of human diabetic corneas
    Mehrnoosh Saghizadeh
    Ophthalmology Research Laboratories, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Invest Ophthalmol Vis Sci 46:3604-15. 2005
    ..To identify proteinases and growth factors abnormally expressed in human corneas of donors with diabetic retinopathy (DR), additional to previously described matrix metalloproteinase (MMP)-10 and -3 and insulin-like growth factor (IGF)-I...
  46. ncbi request reprint Differential induction of glioblastoma migration and growth by two forms of pleiotrophin
    Kan V Lu
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
    J Biol Chem 280:26953-64. 2005
    ..These results indicate that the PTN18-PTPRZ1 and the PTN15-ALK signaling pathways represent potentially important therapeutic targets for glioblastoma invasion and growth...
  47. ncbi request reprint Maternal embryonic leucine zipper kinase is a key regulator of the proliferation of malignant brain tumors, including brain tumor stem cells
    Ichiro Nakano
    Department of Neurosurgery, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    J Neurosci Res 86:48-60. 2008
    ..These results demonstrate a critical role for MELK in the proliferation of brain tumors, including their stem cells, and suggest that MELK may be a compelling molecular target for treatment of high-grade brain tumors...
  48. pmc Disease gene characterization through large-scale co-expression analysis
    Allen Day
    Department of Human Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA
    PLoS ONE 4:e8491. 2009
    ..In the post genome era, a major goal of biology is the identification of specific roles for individual genes. We report a new genomic tool for gene characterization, the UCLA Gene Expression Tool (UGET)...
  49. pmc Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11
    Matthew N Ogdie
    Human Genetics, University of California Los Angeles, Los Angeles, CA, USA
    Am J Hum Genet 75:661-8. 2004
    ..The refinement of linkage within each of these regions lays the foundation for subsequent investigations using association methods to detect risk genes of moderate effect size...
  50. pmc ZBED4, a BED-type zinc-finger protein in the cones of the human retina
    Mehrnoosh Saghizadeh
    Jules Stein Eye Institute, David Geffen School of Medicine, University of California Los Angeles UCLA, Los Angeles, California, USA
    Invest Ophthalmol Vis Sci 50:3580-8. 2009
    ..To characterize the ZBED4 cDNA identified by subtractive hybridization and microarray of retinal cone degeneration (cd) adult dog mRNA from mRNA of normal dog retina...
  51. ncbi request reprint A new episodic ataxia syndrome with linkage to chromosome 19q13
    Kevin A Kerber
    Department of Neurology, UCLA, Los Angeles, California 90095 1769, USA
    Arch Neurol 64:749-52. 2007
    ..Multiple episodic ataxia phenotypes and genotypes have been described...
  52. ncbi request reprint Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse
    Ganka Nikolova
    Department of Human Genetics, University of California, 695 Charles Young Drive South, Gonda Room 5506, Los Angeles, CA, 90095 7088, USA
    Hum Genet 120:847-56. 2007
    ..Altogether these data suggest that a polymorphism in the promoter of LAMC1 may increase the susceptibility to early-onset pelvic organ prolapse...
  53. pmc Genomic landscape of meningiomas
    Yohan Lee
    Department of Human Genetics, UCLA School of Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, Calif 90095 7088, USA
    Brain Pathol 20:751-62. 2010
    ..These data offer the most complete description of the genomic landscape of meningiomas, and provide broad genomic information that may be used to further stratify meningioma patients into prognostic risk groups...
  54. pmc BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 87:532-7. 2010
    ..Phenotypic similarities between DSD and Bmper null mice indicate that BMPER-mediated signaling plays an essential role in vertebral segmentation early in human development...
  55. pmc A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan
    Stuart W Tompson
    Medical Genetics Institute, Steven Spielberg Building, Cedars Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:72-9. 2009
    ..These findings identify an autosomal-recessive skeletal dysplasia and a significant role for the aggrecan C-type lectin domain in regulating endochondral ossification and, thereby, height...
  56. pmc Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation
    Ichiro Nakano
    Department of Pharmacology, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, CA 90095, USA
    J Cell Biol 170:413-27. 2005
    ..These findings indicate that MELK is necessary for proliferation of embryonic and postnatal MNP and suggest that it regulates the transition from GFAP-expressing progenitors to rapid amplifying progenitors in the postnatal brain...
  57. ncbi request reprint A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, 90095, USA
    Hum Mol Genet 15:251-8. 2006
    ..Additional family and population-based linkage and association studies will be needed to determine the causative alleles...
  58. ncbi request reprint Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays
    Christopher M Stanczak
    Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, California 90095 1752, USA
    Hum Mutat 28:235-42. 2007
    ..S. neonates annually) reported to have cytogenetic disorders, we envision a significant need for such a standardized platform to carry out rapid, high-throughput, genomic analyses for molecular cytogenetics applications...
  59. ncbi request reprint High density SNP association study of a major autism linkage region on chromosome 17
    Jennifer L Stone
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Hum Mol Genet 16:704-15. 2007
    ..34-2.29...
  60. ncbi request reprint Evaluation of techniques using amplified nucleic acid probes for gene expression profiling
    Mehrnoosh Saghizadeh
    Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA 90095, USA
    Biomol Eng 20:97-106. 2003
    ..Both the PCR-amplified probe and the IVT-amplified probe were comparable in reproducibility and reliability...
  61. ncbi request reprint Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome
    Christopher M Stanczak
    Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles UCLA, Los Angeles, California 90095 1752, USA
    Hum Mutat 29:176-81. 2008
    ..For circumstances in which a clear, a priori, copy-number change hypothesis is not present, such as in many clinical samples, change-point methods of analysis may be easier to interpret...
  62. ncbi request reprint A novel mutation in KCNA1 causes episodic ataxia without myokymia
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    Hum Mutat 24:536. 2004
    ..This mutation leads to a distinct clinical phenotype without myokymia broadening the scope of clinical characteristics of EA1 and highlighting the heterogeneity of phenotypic effects from distinct missense mutations...
  63. pmc Detecting tissue-specific regulation of alternative splicing as a qualitative change in microarray data
    Keith Le
    Department of Chemistry and Biochemistry, Center for Genomics and Proteomics, Molecular Biology Institute, University of California, Los Angeles, CA 90095 1570, USA
    Nucleic Acids Res 32:e180. 2004
    ..Our data and analysis source code are available from http://www.bioinformatics.ucla.edu/ASAP...
  64. doi request reprint Cognitive functioning in affected sibling pairs with ADHD: familial clustering and dopamine genes
    Sandra K Loo
    UCLA Department of Psychiatry and Biobehavioral Sciences, Los Angeles, CA, USA
    J Child Psychol Psychiatry 49:950-7. 2008
    ..This paper examines familiality and candidate gene associations of cognitive measures as potential endophenotypes in attention-deficit/hyperactivity disorder (ADHD)...
  65. pmc Changing the landscape of autism research: the autism genetic resource exchange
    Clara M Lajonchere
    Autism Speaks, Los Angeles, CA 90036, USA
    Neuron 68:187-91. 2010
    ..The model that AGRE has developed can be applied broadly to other disorders with complex etiologies...
  66. doi request reprint Accuracy of phenotyping of autistic children based on Internet implemented parent report
    Hane Lee
    Department of Human Genetics, University of California Los Angeles, 695 Charles E Young Dr South, Los Angeles, CA 90095, USA
    Am J Med Genet B Neuropsychiatr Genet 153:1119-26. 2010
    ..These data support the reliability and feasibility of the IAN-implemented parent-report paradigms for the ascertainment of clinical ASD for large-scale genetic research...
  67. pmc Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
    Matthew J Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Nat Genet 40:999-1003. 2008
    ..This study thus defines a previously unknown mechanism, activation of a calcium-permeable TRP ion channel, in skeletal dysplasia pathogenesis...
  68. pmc Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome
    Amy E Merrill
    Medical Genetics Research Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:542-9. 2009
    ..These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth...
  69. doi request reprint Genetically defined EWS/FLI1 model system suggests mesenchymal origin of Ewing's family tumors
    Gary Potikyan
    Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA
    Lab Invest 88:1291-302. 2008
    ..The experiments presented here provide a solid foundation for generation of a new model system for studying Ewing's sarcoma biology...
  70. pmc Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure
    Arnaud Lacombe
    Department of Human Genetics, University of California at Los Angeles, 90095, USA
    Am J Hum Genet 79:113-9. 2006
    ..Our study suggests that a homozygous point mutation in POF1B influences the pathogenesis of POF by altering POF1B binding to nonmuscle actin filaments...
  71. pmc A genomewide scan for loci involved in attention-deficit/hyperactivity disorder
    Simon E Fisher
    Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom
    Am J Hum Genet 70:1183-96. 2002
    ..Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs...
  72. ncbi request reprint Collaborative analysis of DRD4 and DAT genotypes in population-defined ADHD subtypes
    Richard D Todd
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Child Psychol Psychiatry 46:1067-73. 2005
    ..The goal of the current study is to test whether population-based ADHD subtypes defined by latent class analysis help resolve issues of variable findings across individual gene association studies...
  73. ncbi request reprint Distinct gene expression profiles in adult mouse heart following targeted MAP kinase activation
    Scherise Mitchell
    Department of Physiology, University of Maryland Baltimore, School of Medicine, Maryland, USA
    Physiol Genomics 25:50-9. 2006
    ..These results provide an overview to both short-term and long-term effects of MAP kinase activation in heart and support some common as well as unique roles for each MAP kinase cascade in the development of heart failure...
  74. pmc Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain
    Jeffrey C Lee
    Department of Medical Oncology and Center for Cancer Genome Discovery, Dana Farber Cancer Institute Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Med 3:e485. 2006
    ..Missense mutations in the EGFR kinase domain, for example, have recently been identified in patients who showed clinical responses to EGFR kinase inhibitor therapy...
  75. ncbi request reprint ADHD candidate gene study in a population-based birth cohort: association with DBH and DRD2
    Emma S Nyman
    National Public Health Institute, Helsinki, Finland
    J Am Acad Child Adolesc Psychiatry 46:1614-21. 2007
    ..This study tests a series of allelic variants within such candidate genes to determine their potential influence on ADHD susceptibility...
  76. doi request reprint Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Science 320:539-43. 2008
    ..These results suggest that multiple, individually rare mutations altering genes in neurodevelopmental pathways contribute to schizophrenia...
  77. pmc Identification of EpCAM as the gene for congenital tufting enteropathy
    Mamata Sivagnanam
    Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California San Diego, La Jolla, California, USA
    Gastroenterology 135:429-37. 2008
    ..The pathogenesis and genetics of this disorder are not well understood. The objective of this study was to identify the gene responsible for CTE...
  78. pmc Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies
    Nils Homer
    Translational Genomics Research Institute TGen, Phoenix, AZ 85004, USA
    Bioinformatics 24:1896-902. 2008
    ..This multimarker method can now be used to cost-effectively complete pooling-based GWA studies with multiple platforms across over one million SNPs and to impute neighboring SNPs weighted for the loss of information due to pooling...
  79. pmc Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays
    Nils Homer
    Translational Genomics Research Institute, Phoenix, Arizona, United States of America
    PLoS Genet 4:e1000167. 2008
    ..These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed...
  80. pmc Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning
    Shawn J Cokus
    Department of Molecular, Cell, and Developmental Biology, University of California at Los Angeles, Los Angeles, California 90095, USA
    Nature 452:215-9. 2008
    ....
  81. ncbi request reprint Identification of genes required for immortalization in human papillomavirus-infected human oral keratinocytes
    Junko Nishitani
    Department of Otolaryngology, Charles R Drew University of Medicine and Science, Los Angeles, CA 90059, USA
    Cell Mol Biol (Noisy-le-grand) 48:OL331-41. 2002
    ..The altered expression of these genes maybe associated with cellular proliferation or differentiation and the early stages of oral carcinogenesis...

Research Grants18

  1. SNP studies in ADHD linked regions
    Stanley Nelson; Fiscal Year: 2009
    ..Additionally, identification of genes with clear relationships to behavior will provide an improved understanding of basic processes of learning. ..
  2. SNP studies in ADHD linked regions
    Stanley Nelson; Fiscal Year: 2007
    ..Additionally, identification of genes with clear relationships to behavior will provide an improved understanding of basic processes of learning. ..
  3. UCLA NINDS/NIMH Microarray Center
    Stanley Nelson; Fiscal Year: 2007
    ....
  4. UCLA NHLBI Shared Microarray Facilities
    Stanley Nelson; Fiscal Year: 2005
    ..As large scale data handling and processing can be a daunting task for biologists, we propose to provide dedicated expert data managing and statistical assistance. ..
  5. UCLA NINDS/NIMH Microarray Center
    Stanley Nelson; Fiscal Year: 2004
    ..6. Provide means to create and analyze custom oligonucleotide arrays. 7. Provide advise and training regarding microarray experimentation to NINDS and NIMH funded investigators. ..
  6. GENE EXPRESSION BASED CLASSIFICATION OF GLIAL TUMORS
    Stanley Nelson; Fiscal Year: 2004
    ..3)To develop a set of genes with prognostic importance in low grade astrocytomas. 4)To validate the importance of the genes from specific aims 2 and 3 in the prognosis of low grade astrocytomas. ..
  7. SNP studies in ADHD linked regions
    Stanley F Nelson; Fiscal Year: 2010
    ..Additionally, identification of genes with clear relationships to behavior will provide an improved understanding of basic processes of learning. ..