Research Output 1984 2017

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2017

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy

Theisen, B. E., Rumyantseva, A., Cohen, J. S., Alcaraz, W. A., Shinde, D. N., Tang, S., Srivastava, S., Pevsner, J., Trifunovic, A. & Fatemi, A. 2017 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Tryptophan-tRNA Ligase
Leukoencephalopathies
Amino Acyl-tRNA Synthetases
Intellectual Disability
Athetosis

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

McConnell, M. J. , Moran, J. V. , Abyzov, A. , Akbarian, S. , Bae, T. , Cortes-Ciriano, I. , Erwin, J. A. , Fasching, L. , Flasch, D. A. , Freed, D. , Ganz, J. , Jaffe, A. E. , Kwan, K. Y. , Kwon, M. , Lodato, M. A. , Mills, R. E. , Paquola, A. C. M. , Rodin, R. E. , Rosenbluh, C. , Sestan, N. & 20 others Sherman, M. A., Shin, J. H., Song, S., Straub, R. E., Thorpe, J., Weinberger, D. R., Urban, A. E., Zhou, B., Gage, F. H., Lehner, T., Senthil, G., Walsh, C. A., Chess, A., Courchesne, E., Gleeson, J. G., Kidd, J. M., Park, P. J., Pevsner, J., Vaccarino, F. M. & Brain Somatic Mosaicism Network Apr 28 2017 In : Science. 356, 6336, 395

Research output: Research - peer-reviewArticle

Mosaicism
Brain Diseases
Genome
Brain
Neurons
2016

Analysis of differential gene expression mediated by clozapine in human postmortem brains

Lee, B. J., Marchionni, L., Andrews, C. E., Norris, A. L., Nucifora, L. G., Wu, Y. C., Wright, R. A., Pevsner, J., Ross, C. A., Margolis, R. L., Sawa, A. & Nucifora, F. C. Oct 28 2016 (Accepted/In press) In : Schizophrenia Research.

Research output: Research - peer-reviewArticle

Clozapine
Gene Expression
Brain
Antipsychotic Agents
Genes

Copy number variants associated with 14 cases of self-injurious behavior

Shirley, M. D., Frelin, L., López, J. S., Jedlicka, A., Dziedzic, A., Frank-Crawford, M. A., Silverman, W., Hagopian, L. & Pevsner, J. Mar 1 2016 In : PLoS One. 11, 3, e0149646

Research output: Research - peer-reviewArticle

Self-Injurious Behavior
Intellectual Disability
Serotonin Receptors
Transcription Factors
Genes

Microarray-based phospho-proteomic profiling of complex biological systems

Goodwin, C. R., Woodard, C. L., Zhou, X., Pan, J., Olivi, A., Xia, S., Bettegowda, C., Sciubba, D. M., Pevsner, J., Zhu, H. & Laterra, J. Apr 1 2016 In : Translational Oncology. 9, 2, p. 124-129 6 p.

Research output: Research - peer-reviewArticle

Protein Array Analysis
Proteomics
Phosphotransferases
Neoplasms
Tumor Microenvironment

The Contribution of Mosaic Variants to Autism Spectrum Disorder

Freed, D. & Pevsner, J. Sep 1 2016 In : PLoS Genetics. 12, 9, e1006245

Research output: Research - peer-reviewArticle

mutation
mosaic
autism
Mutation
Autism Spectrum Disorder
2014

A novel variant in GABRB2 associated with intellectual disability and epilepsy

Srivastava, S., Cohen, J., Pevsner, J., Aradhya, S., Mcknight, D., Butler, E., Johnston, M. & Fatemi, A. Nov 1 2014 In : American Journal of Medical Genetics, Part A. 164, 11, p. 2914-2921 8 p.

Research output: Research - peer-reviewArticle

Intellectual Disability
gamma-Aminobutyric Acid
Epilepsy
Mutation
Amino Acids

Haplotype counting by next-generation sequencing for ultrasensitive human DNA detection

Debeljak, M., Freed, D. N., Welch, J. A., Haley, L., Beierl, K., Iglehart, B. S., Pallavajjala, A., Gocke, C. D., Leffell, M. S., Lin, M. T., Pevsner, J., Wheelan, S. J. & Eshleman, J. R. 2014 In : Journal of Molecular Diagnostics. 16, 5, p. 495-503 9 p.

Research output: Research - peer-reviewArticle

Haplotypes
Single Nucleotide Polymorphism
DNA
Hematopoietic Stem Cell Transplantation
Microsatellite Repeats

Somatic mosaicism in the human genome

Freed, D., Stevens, E. L. & Pevsner, J. Dec 11 2014 In : Genes. 5, 4, p. 1064-1094 31 p.

Research output: Research - peer-reviewArticle

Mosaicism
Human Genome
Mutation
Neoplasms
Cytogenetics
2013

A needle in a haystack: Sturge-Weber syndrome gene discovery

Comi, A. M., Marchuk, D. A. & Pevsner, J. Dec 2013 In : Pediatric Neurology. 49, 6, p. 391-392 2 p.

Research output: Research - peer-reviewArticle

Olfactory cells via nasal biopsy reflect the developing brain in gene expression profiles: Utility and limitation of the surrogate tissues in research for brain disorders

Horiuchi, Y., Kano, S. I., Ishizuka, K., Cascella, N. G., Ishii, S., Talbot, C. C., Jaffe, A. E., Okano, H., Pevsner, J., Colantuoni, C. & Sawa, A. Dec 2013 In : Neuroscience Research. 77, 4, p. 247-250 4 p.

Research output: Research - peer-reviewArticle

Brain Diseases
Transcriptome
Nose
Biopsy
Brain

Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

Baugher, J. D., Baugher, B. D., Shirley, M. D. & Pevsner, J. May 31 2013 In : BMC Genomics. 14, 1, 367

Research output: Research - peer-reviewArticle

Mosaicism
Chromosome Aberrations
Software
Datasets
Aptitude

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

Shirley, M. D., Tang, H., Gallione, C. J., Baugher, J. D., Frelin, L. P., Cohen, B., North, P. E., Marchuk, D. A., Comi, A. M. & Pevsner, J. 2013 In : New England Journal of Medicine. 368, 21, p. 1971-1979 9 p.

Research output: Research - peer-reviewArticle

Sturge-Weber Syndrome
Port-Wine Stain
Mutation
Neurocutaneous Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Unique pharmacological actions of atypical neuroleptic quetiapine: Possible role in cell cycle/fate control

Kondo, M. A., Tajinda, K., Colantuoni, C., Hiyama, H., Seshadri, S., Huang, B., Pou, S., Furukori, K., Hookway, C., Jaaro-Peled, H., Kano, S. I., Matsuoka, N., Harada, K., Ni, K., Pevsner, J. & Sawa, A. 2013 In : Translational Psychiatry. 3, e243

Research output: Research - peer-reviewArticle

Cell Cycle Checkpoints
Antipsychotic Agents
Pharmacology
Quetiapine Fumarate
Genes
2012

Chromosomal variation in lymphoblastoid cell lines

Shirley, M. D., Baugher, J. D., Stevens, E. L., Tang, Z., Gerry, N., Beiswanger, C. M., Berlin, D. S. & Pevsner, J. Jul 2012 In : Human Mutation. 33, 7, p. 1075-1086 12 p.

Research output: Research - peer-reviewArticle

Cell Line
Genotype
Blood Cells
HapMap Project
Metagenomics

Consanguinity in Centre dtude du Polymorphisme Humain (CEPH) pedigrees

Stevens, E. L., Heckenberg, G., Baugher, J. D., Roberson, E. D. O., Downey, T. J. & Pevsner, J. Jun 2012 In : European Journal of Human Genetics. 20, 6, p. 657-667 11 p.

Research output: Research - peer-reviewArticle

Consanguinity
Pedigree
Parents
Grandparents
HapMap Project

Unexpected Relationships and Inbreeding in HapMap Phase III Populations

Stevens, E. L., Baugher, J. D., Shirley, M. D., Frelin, L. P. & Pevsner, J. Nov 19 2012 In : PLoS One. 7, 11, e49575

Research output: Research - peer-reviewArticle

HapMap Project
Inbreeding
Parents
Population
inbreeding
2011

Genomic analysis of partial 21q monosomies with variable phenotypes

Roberson, E. D. O., Wohler, E. S., Hoover-Fong, J. E., Lisi, E., Stevens, E. L., Thomas, G. H., Leonard, J., Hamosh, A. & Pevsner, J. Feb 2011 In : European Journal of Human Genetics. 19, 2, p. 235-238 4 p.

Research output: Research - peer-reviewArticle

Chromosome Deletion
Phenotype
Chromosome 21 monosomy
Single Nucleotide Polymorphism
Genes

Inference of relationships in population data using identity-by-descent and identity-by-state

Stevens, E. L., Heckenberg, G., Roberson, E. D. O., Baugher, J. D., Downey, T. J. & Pevsner, J. Sep 2011 In : PLoS Genetics. 7, 9, e1002287

Research output: Research - peer-reviewArticle

Population
methodology
method
relatedness
Pedigree

Performance assessment of copy number microarray platforms using a spike-in experiment

Halper-Stromberg, E., Frelin, L., Ruczinski, I., Scharpf, R., Jie, C., Carvalho, B., Hao, H., Hetrick, K., Jedlicka, A., Dziedzic, A., Doheny, K., Scott, A. F., Baylin, S., Pevsner, J., Spencer, F. & Irizarry, R. A. Apr 2011 In : Bioinformatics. 27, 8, p. 1052-1060 9 p., btr106

Research output: Research - peer-reviewArticle

DNA Copy Number Variations
Benchmarking
Single Nucleotide Polymorphism
Technology
Sensitivity and Specificity
2010

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira, N. L. M., Cirulli, E. T., Avramopoulos, D., Wohler, E., Oswald, G. L., Stevens, E. L., Ge, D., Shianna, K. V., Smith, J. P., Maia, J. M., Gumbs, C. E., Pevsner, J., Thomas, G., Valle, D., Hoover-Fong, J. E. & Goldstein, D. B. 2010 In : PLoS Genetics. 6, 6

Research output: Research - peer-reviewArticle

genome
gene
analysis
exons
linkage (genetics)
2009

Locations and patterns of meiotic recombination in two-generation pedigrees

Ting, J. C., Roberson, E. D. O., Currier, D. G. & Pevsner, J. Sep 17 2009 In : BMC Medical Genetics. 10, p. 93 1 p., 1471

Research output: Research - peer-reviewArticle

Pedigree
Genetic Recombination
Genotype
Autistic Disorder
Germ Cells
Hearing
Single Nucleotide Polymorphism
Genes
Chromosomes, Human, Pair 10
Sensorineural Hearing Loss

Visualization of shared genomic regions and meiotic recombination in high-density SNP data

Roberson, E. D. O. & Pevsner, J. Aug 21 2009 In : PLoS One. 4, 8, e6711

Research output: Research - peer-reviewArticle

Pedigree
Genetic Recombination
Single Nucleotide Polymorphism
pedigree
single nucleotide polymorphism
2008

Efficient array-based identification of novel cardiac genes through differentiation of mouse ESCs

Miller, R. A., Christoforou, N., Pevsner, J., McCallion, A. S. & Gearhart, J. D. May 14 2008 In : PLoS One. 3, 5, e2176

Research output: Research - peer-reviewArticle

embryonic stem cells
mice
genes
cells
Genes

Estimating genome-wide copy number using allele-specific mixture models

Wang, W., Carvalho, B., Miller, N. D., Pevsner, J., Chakravarti, A. & Irizarry, R. A. Sep 1 2008 In : Journal of Computational Biology. 15, 7, p. 857-866 10 p.

Research output: Research - peer-reviewArticle

Mixture Model
Genome
Alleles
Genes
Technology
Single nucleotide Polymorphism
Markov Model
High Throughput
Hidden Markov models
Nucleotides
2007

DNA methylation signatures within the human brain

Ladd-Acosta, C., Pevsner, J., Sabunciyan, S., Yolken, R. H., Webster, M. J., Dinkins, T., Callinan, P. A., Fan, J. B., Potash, J. B. & Feinberg, A. P. 2007 In : American Journal of Human Genetics. 81, 6, p. 1304-1315 12 p.

Research output: Research - peer-reviewArticle

DNA Methylation
Brain
Genes
Pons
Cerebellum

Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome

Watkins, P. A., Maiguel, D., Jia, Z. & Pevsner, J. Dec 2007 In : Journal of Lipid Research. 48, 12, p. 2736-2750 15 p.

Research output: Research - peer-reviewArticle

Coenzyme A Ligases
Human Genome
Genes
Proteins
Amino Acid Sequence

FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice

Deng, V., Matagne, V., Banine, F., Frerking, M., Ohliger, P., Budden, S., Pevsner, J., Dissen, G. A., Sherman, L. S. & Ojeda, S. R. Mar 15 2007 In : Human Molecular Genetics. 16, 6, p. 640-650 11 p.

Research output: Research - peer-reviewArticle

Methyl-CpG-Binding Protein 2
Rett Syndrome
Brain
Genes
Neurons

HIF-Dependent Antitumorigenic Effect of Antioxidants In Vivo

Gao, P., Zhang, H., Dinavahi, R., Li, F., Xiang, Y., Raman, V., Bhujwalla, Z. M., Felsher, D. W., Cheng, L., Pevsner, J., Lee, L. A., Semenza, G. L. & Dang, C. V. Sep 11 2007 In : Cancer Cell. 12, 3, p. 230-238 9 p.

Research output: Research - peer-reviewArticle

Antioxidants
Hypoxia
Hypoxia-Inducible Factor 1
Genomic Instability
DNA Damage

Lack of evidence for increased genetic loading for autism among families of affected females: A replication from family history data in two large samples

Goin-Kochel, R. P., Abbacchi, A., Constantino, J. N., Geschwind, D. H., Brown, W. T., Bucan, M., Buxbaum, J., Gilliam, T. C., Greenberg, D. A., Ledbetter, D. H., Miller, B., Nelson, S. F., Pevsner, J., Schellenberg, G. D., Smango-Sprouse, C. A., Tanzi, R. E. & Silverman, J. M. May 2007 In : Autism. 11, 3, p. 279-286 8 p.

Research output: Research - peer-reviewArticle

Autistic Disorder
Autism Spectrum Disorder
Asperger Syndrome
Siblings
Phenotype

Removal of cerumen from ear canal using lighted curettes [1]

Pevsner, J. Jul 1 2007 In : American Family Physician. 76, 1, p. 32 1 p.

Research output: Research - peer-reviewArticle

SNPchip: R classes and methods for SNP array data

Scharpf, R. B., Ting, J. C., Pevsner, J. & Ruczinski, I. Mar 2007 In : Bioinformatics. 23, 5, p. 627-628 2 p.

Research output: Research - peer-reviewArticle

Chip
Class
Genes
Single Nucleotide Polymorphism
Genome

Visualization of uniparental inheritance, mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

Ting, J. C., Roberson, E. D. O., Miller, N. D., Lysholm-Bernacchi, A., Stephan, D. A., Capone, G. T., Ruczinski, I., Thomas, G. H. & Pevsner, J. Dec 2007 In : Human Mutation. 28, 12, p. 1225-1235 11 p.

Research output: Research - peer-reviewArticle

Uniparental Disomy
Single Nucleotide Polymorphism
DNA
Down Syndrome
Beckwith-Wiedemann Syndrome
2006

Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

Ting, J. C., Ye, Y., Thomas, G. H., Ruczinski, I. & Pevsner, J. Jan 18 2006 In : BMC Bioinformatics. 7, 25

Research output: Research - peer-reviewArticle

Single nucleotide Polymorphism
Visualization
Nucleotides
Polymorphism
Chromosome Aberrations
2005

mVps24p functions in EGF receptor sorting/trafficking from the early endosome

Yan, Q., Hunt, P. R., Frelin, L., Vida, T. A., Pevsner, J. & Bean, A. J. Mar 10 2005 In : Experimental Cell Research. 304, 1, p. 265-273 9 p.

Research output: Research - peer-reviewArticle

Endosomes
Epidermal Growth Factor Receptor
trans-Golgi Network
Fungal Proteins
Recycling

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart

Mao, R., Wang, X., Spitznagel, E. L., Frelin, L. P., Ting, J. C., Ding, H., Kim, J. W., Ruczinski, I., Downey, T. J. & Pevsner, J. Dec 16 2005 In : Genome Biology. 6, 13, R107

Research output: Research - peer-reviewArticle

Down syndrome
heart
chromosomes
brain
chromosome
Chromosome Aberrations
Intellectual Disability
Technology
DNA
Comparative Genomic Hybridization
2004

Discovering novel phenotype-selective neurotrophic factors to treat neurodegenerative diseases

Petrova, P. S., Raibekas, A., Pevsner, J., Vigo, N., Anafi, M., Moore, M. K., Peaire, A., Shridhar, V., Smith, D. I., Kelly, J., Durocher, Y. & Commissiong, J. W. 2004 In : Progress in Brain Research. 146, p. 167-183 17 p.

Research output: Research - peer-reviewArticle

Nerve Growth Factors
Astrocytes
Neurodegenerative Diseases
Phenotype
Cell Line

Gene expression alterations over large chromosomal regions in cancers include multiple genes unrelated to malignant progression

Masayesva, B. G., Ha, P., Garrett-Mayer, E., Pilkington, T., Mao, R., Pevsner, J., Speed, T., Benoit, N., Moon, C. S., Sidransky, D., Westra, W. H. & Califano, J. Jun 8 2004 In : Proceedings of the National Academy of Sciences of the United States of America. 101, 23, p. 8715-8720 6 p.

Research output: Research - peer-reviewArticle

Gene Expression
Genes
Neoplasms
Allelic Imbalance
Comparative Genomic Hybridization

Mitochondrial fission proteins regulate programmed cell death in yeast

Fannjiang, Y., Cheng, W. C., Lee, S. J., Qi, B., Pevsner, J., McCaffery, J. M., Hill, R. B., Basañez, G. & Hardwick, J. M. Nov 15 2004 In : Genes & development. 18, 22, p. 2785-2797 13 p.

Research output: Research - peer-reviewArticle

Mitochondrial Dynamics
Mitochondrial Proteins
Cell Death
Yeasts
Cysteine Proteases

Progress in the use of microarray technology to study the neurobiology of disease

Mirnics, K. & Pevsner, J. May 2004 In : Nature Neuroscience. 7, 5, p. 434-439 6 p.

Research output: Research - peer-reviewArticle

Neurobiology
Technology
Brain
Phenotype
Gene Expression

Viral Bcl-2 homologs and their role in virus replication and associated diseases

Polster, B. M., Pevsner, J. & Hardwick, J. M. Mar 1 2004 In : Biochimica et Biophysica Acta - Molecular Cell Research. 1644, 2-3, p. 211-227 17 p.

Research output: Research - peer-reviewArticle

Virus Replication
Proteins
Viruses
Cell Death
Satellite Viruses
2003

A transcriptional progression model for head and neck cancer

Ha, P. K., Benoit, N. E., Yochem, R., Sciubba, J., Zahurak, M., Sidransky, D., Pevsner, J., Westra, W. H. & Califano, J. Aug 1 2003 In : Clinical Cancer Research. 9, 8, p. 3058-3064 7 p.

Research output: Research - peer-reviewArticle

Head and Neck Neoplasms
Carcinoma, squamous cell of head and neck
Mucous Membrane
Genes
Genetic Models

Clinical variability in Rett syndrome

Naidu, S., Bibat, G., Kratz, L., Kelley, R. I., Pevsner, J., Hoffman, E., Cuffari, C., Rohde, C., Blue, M. E. & Johnston, M. V. Oct 2003 In : Journal of Child Neurology. 18, 10, p. 662-668 7 p.

Research output: Research - peer-reviewArticle

Rett Syndrome
Mutation
Neurons
X Chromosome Inactivation
Missense Mutation

Development of human protein reference database as an initial platform for approaching systems biology in humans

Peri, S. , Navarro, J. D. , Amanchy, R. , Kristiansen, T. Z. , Jonnalagadda, C. K. , Surendranath, V. , Niranjan, V. , Muthusamy, B. , Gandhi, T. K. B. , Gronborg, M. , Ibarrola, N. , Deshpande, N. , Shanker, K. , Shivashankar, H. N. , Rashmi, B. P. , Ramya, M. A. , Zhao, Z. , Chandrika, K. N. , Padma, N. , Harsha, H. C. & 32 others Yatish, A. J., Kavitha, M. P., Menezes, M., Choudhury, D. R., Suresh, S., Ghosh, N., Saravana, R., Chandran, S., Krishna, S., Joy, M., Anand, S. K., Madavan, V., Joseph, A., Wong, G. W., Schiemann, W. P., Constantinescu, S. N., Huang, L., Khosravi-Far, R., Steen, H., Tewari, M., Ghaffari, S., Blobe, G. C., Dang, C. V., Garcia, J. G. N., Pevsner, J., Jensen, O. N., Roepstorff, P., Deshpande, K. S., Chinnaiyan, A. M., Hamosh, A., Chakravarti, A. & Pandey, A. Oct 1 2003 In : Genome Research. 13, 10, p. 2363-2371 9 p.

Research output: Research - peer-reviewArticle

Protein Databases
Systems Biology
Human Development
Proteins
Databases
Databases
Genes
Gene Expression
Encyclopedias
Online Systems

Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis

Cohen, D. R. S., Matarazzo, V., Palmer, A. M., Tu, Y., Jeon, O. H., Pevsner, J. & Ronnett, G. V. Apr 1 2003 In : Molecular and Cellular Neuroscience. 22, 4, p. 417-429 13 p.

Research output: Research - peer-reviewArticle

Olfactory Receptor Neurons
Rett Syndrome
Neurogenesis
Detergents
Carrier Proteins

Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain

Mao, R., Zielke, C. L., Zielke, H. R. & Pevsner, J. May 1 2003 In : Genomics. 81, 5, p. 457-467 11 p.

Research output: Research - peer-reviewArticle

Chromosomes, Human, Pair 21
Down Syndrome
Up-Regulation
Gene Expression
Brain