Jonathan A. Pevsner

Fac-Assoc Prof-Staff

1984 …2018
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Research Output 1984 2018

2018

Genetic and genomic stability across lymphoblastoid cell line expansions

Scheinfeldt, L. B., Hodges, K., Pevsner, J., Berlin, D., Turan, N. & Gerry, N. P., Aug 3 2018, In : BMC Research Notes. 11, 1, 558

Research output: Contribution to journalArticle

Genomic Instability
Cells
Cell Line
DNA
Single Nucleotide Polymorphism

Wireless control of cellular function by activation of a novel protein responsive to electromagnetic fields

Krishnan, V., Park, S. A., Shin, S. S., Alon, L., Tressler, C. M., Stokes, W., Banerjee, J., Sorrell, M. E., Tian, Y., Fridman, G. Y., Celnik, P., Pevsner, J., Guggino, W. B., Gilad, A. A. & Pelled, G., Dec 1 2018, In : Scientific Reports. 8, 1, 8764

Research output: Contribution to journalArticle

Electromagnetic Fields
Electromagnetic Phenomena
Genes
Proteins
Avoidance Learning
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: Contribution to journalArticle

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

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

Brain Somatic Mosaicism Network, Apr 28 2017, In : Science. 356, 6336, 395

Research output: Contribution to journalArticle

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: Contribution to journalArticle

Clozapine
Antipsychotic Agents
Gene Expression
Brain
Schizophrenia

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: Contribution to journalArticle

Self-Injurious Behavior
Serotonin Receptors
Intellectual Disability
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: Contribution to journalArticle

Protein Array Analysis
Proteomics
Phosphotransferases
Tumor Microenvironment
Glioma

Molecular signatures associated with cognitive deficits in schizophrenia: a study of biopsied olfactory neural epithelium

Horiuchi, Y., Kondo, M. A., Okada, K., Takayanagi, Y., Tanaka, T., Ho, T., Varvaris, M., Tajinda, K., Hiyama, H., Ni, K., Colantuoni, C., Schretlen, D., Cascella, N. G., Pevsner, J., Ishizuka, K. & Sawa, A., Oct 11 2016, In : Translational Psychiatry. 6, 10, p. e915

Research output: Contribution to journalArticle

Smad5 Protein
Olfactory Mucosa
Neuropsychological Tests
Oligonucleotide Array Sequence Analysis
Real-Time Polymerase Chain Reaction

The Contribution of Mosaic Variants to Autism Spectrum Disorder

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

Research output: Contribution to journalArticle

mutation
Mutation
Exome
Autism Spectrum Disorder
mosaic
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: Contribution to journalArticle

Intellectual Disability
gamma-Aminobutyric Acid
Epilepsy
Mutation
Exome

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: Contribution to journalArticle

Haplotypes
Single Nucleotide Polymorphism
Hematopoietic Stem Cell Transplantation
Microsatellite Repeats
HLA-A Antigens

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: Contribution to journalArticle

Mosaicism
Human Genome
Mutation
Cytogenetics
Neoplasms

Sturge-Weber Syndrome

Comi, A. M., Marchuk, D. A. & Pevsner, J., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 945-953 9 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Sturge-Weber Syndrome
Mutation
Megalencephaly
Vascular Malformations
Wine
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: Contribution to journalArticle

Sturge-Weber Syndrome
GTP-Binding Protein alpha Subunits
Genetic Association Studies
Genetic Predisposition to Disease

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: Contribution to journalArticle

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: Contribution to journalArticle

Mosaicism
Chromosome Aberrations
Software
Aptitude
Autistic Disorder

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: Contribution to journalArticle

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: Contribution to journalArticle

Cell Cycle Checkpoints
Antipsychotic Agents
Pharmacology
Haloperidol
Frontal Lobe
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: Contribution to journalArticle

Cell Line
Genotype
HapMap Project
Blood Cells
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: Contribution to journalArticle

Consanguinity
Pedigree
Parents
HapMap Project
Parent-Child Relations

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: Contribution to journalArticle

HapMap Project
Inbreeding
parent-child relationships
inbreeding
Parent-Child Relations
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: Contribution to journalArticle

Chromosome Deletion
Phenotype
Single Nucleotide Polymorphism
Karyotyping
Medical Genetics

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: Contribution to journalArticle

relatedness
Pedigree
pedigree
genome
Population

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: Contribution to journalArticle

DNA Copy Number Variations
Benchmarking
Performance Assessment
Microarrays
Nucleotides
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: Contribution to journalArticle

exons
linkage (genetics)
genome
Genome
Exons
2009

Analysis of genomic DNA with the UCSC genome browser

Pevsner, J., 2009, Methods in Molecular Biology. Vol. 537, p. 277-301 25 p. (Methods in Molecular Biology; vol. 537)

Research output: Chapter in Book/Report/Conference proceedingChapter

Genome
DNA
Nucleic Acid Databases
Genomics
Computational Biology

Bioinformatics and Functional Genomics: Second Edition

Pevsner, J., May 12 2009, John Wiley and Sons. 951 p.

Research output: Book/ReportBook

Bioinformatics
Genomics
Computational Biology
Textbooks
Students

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: Contribution to journalArticle

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: Contribution to journalArticle

Pedigree
Chromosomes
Polymorphism
pedigree
Genetic Recombination
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: Contribution to journalArticle

embryonic stem cells
Stem cells
Genes
mice
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: Contribution to journalArticle

Mixture Model
Genome
Genes
Alleles
Technology

Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays

Scharpf, R. B., Parmigiani, G., Pevsner, J. & Ruczinski, I., Jun 2008, In : Annals of Applied Statistics. 2, 2, p. 687-713 27 p.

Research output: Contribution to journalArticle

Single nucleotide Polymorphism
Hidden Markov models
Nucleotides
Polymorphism
Markov Model
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: Contribution to journalArticle

DNA Methylation
Brain
Pons
Cerebellum
Genes

Estimating genome-wide copy number using allele specific mixture models

Wang, W., Carvalho, B., Miller, N., Pevsner, J., Chakravarti, A. & Irizarry, R. A., 2007, Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). Vol. 4453 LNBI, p. 137-150 14 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Mixture Model
Genome
Genes
Alleles
Comparative Genomic Hybridization

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: Contribution to journalArticle

Coenzyme A Ligases
Human Genome
Genes
Amino Acid Sequence
Amino Acid Motifs

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: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Rett Syndrome
Brain
Genes
Frontal Lobe

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: Contribution to journalArticle

Antioxidants
Hypoxia-Inducible Factor 1
Genomic Instability
DNA Damage
Lymphoma

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: Contribution to journalArticle

Autistic Disorder
Asperger Syndrome
Siblings
Autism Spectrum Disorder
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: Contribution to journalArticle

Cerumen
Ear Canal
Curettage
Family Practice
Hearing Loss

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: Contribution to journalArticle

Single Nucleotide Polymorphism
Chip
Genes
Genome
Microarrays

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: Contribution to journalArticle

Uniparental Disomy
Single Nucleotide Polymorphism
Down Syndrome
DNA
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: Contribution to journalArticle

Single nucleotide Polymorphism
Nucleotides
Polymorphism
Chromosome Aberrations
Single Nucleotide Polymorphism
2005

Gene expression in Autism

Pevsner, J., 2005, The Neurobiology of Autism. The Johns Hopkins University Press, p. 207-216 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

autism
Disease

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: Contribution to journalArticle

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: Contribution to journalArticle

Down syndrome
Down Syndrome
trisomics
brain
chromosome
Chromosome Aberrations
Intellectual Disability
Technology
Comparative Genomic Hybridization
DNA
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: Contribution to journalArticle

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: Contribution to journalArticle

Gene Expression
Allelic Imbalance
Genes
Neoplasms
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: Contribution to journalArticle

Mitochondrial Dynamics
Mitochondrial Proteins
Cell Death
Yeasts
Cysteine Proteases