نتائج البحث - Erfan Aref‐Eshghi

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  1. 1
    Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders

    Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders حسب Bekim Sadiković, Michael A. Levy, Erfan Aref‐Eshghi

    منشور في 2020
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  2. 2
    Long‐read sequencing for molecular diagnostics in constitutional genetic disorders

    Long‐read sequencing for molecular diagnostics in constitutional genetic disorders حسب Laura K. Conlin, Erfan Aref‐Eshghi, Deborah McEldrew, Minjie Luo, Ramakrishnan Rajagopalan

    منشور في 2022
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  3. 3
    Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues

    Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues حسب Erfan Aref‐Eshghi, Laila C. Schenkel, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Jean‐Claude Cutz, Bekim Sadiković

    منشور في 2018
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  4. 4
    MALAT1: An Epigenetic Regulator of Inflammation in Diabetic Retinopathy

    MALAT1: An Epigenetic Regulator of Inflammation in Diabetic Retinopathy حسب Saumik Biswas, Anu Thomas, Shali Chen, Erfan Aref‐Eshghi, Biao Feng, John R. Gonder, Bekim Sadiković, Subrata Chakrabarti

    منشور في 2018
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  5. 5
    The Long Non-Coding RNA <i>HOTAIR</i> Is a Critical Epigenetic Mediator of Angiogenesis in Diabetic Retinopathy

    The Long Non-Coding RNA <i>HOTAIR</i> Is a Critical Epigenetic Mediator of Angiogenesis in Diabetic Retinopathy حسب Saumik Biswas, Biao Feng, Shali Chen, Jieting Liu, Erfan Aref‐Eshghi, John R. Gonder, Vy Ngo, Bekim Sadiković, Subrata Chakrabarti

    منشور في 2021
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  6. 6
    Genome-wide DNA methylation study of hip and knee cartilage reveals embryonic organ and skeletal system morphogenesis as major pathways involved in osteoarthritis

    Genome-wide DNA methylation study of hip and knee cartilage reveals embryonic organ and skeletal system morphogenesis as major pathways involved in osteoarthritis حسب Erfan Aref‐Eshghi, Yuhua Zhang, Ming Liu, Patricia E. Harper, Glynn Martin, Andrew Furey, Roger Green, Guang Sun, Proton Rahman, Guangju Zhai

    منشور في 2015
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  7. 7
    Overexpression of MMP13 in human osteoarthritic cartilage is associated with the SMAD-independent TGF-β signalling pathway

    Overexpression of MMP13 in human osteoarthritic cartilage is associated with the SMAD-independent TGF-β signalling pathway حسب Erfan Aref‐Eshghi, Ming Liu, Patricia E. Harper, Jules J.E. Doré, Glynn Martin, Andrew Furey, Roger Green, Proton Rahman, Guangju Zhai

    منشور في 2015
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  8. 8
    The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

    The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance حسب Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    منشور في 2017
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  9. 9
    Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

    Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C حسب Laila C. Schenkel, Erfan Aref‐Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    منشور في 2018
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  10. 10
    Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders

    Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders حسب Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Mok Siu, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    منشور في 2017
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  11. 11
    Classification of osteoarthritis phenotypes by metabolomics analysis

    Classification of osteoarthritis phenotypes by metabolomics analysis حسب Weidong Zhang, Sergei Likhodii, Yuhua Zhang, Erfan Aref‐Eshghi, Patricia E. Harper, Edward Randell, Roger Green, Glynn Martin, Andrew Furey, Guang Sun, Proton Rahman, Guangju Zhai

    منشور في 2014
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  12. 12
    Relationship Between Blood Plasma and Synovial Fluid Metabolite Concentrations in Patients with Osteoarthritis

    Relationship Between Blood Plasma and Synovial Fluid Metabolite Concentrations in Patients with Osteoarthritis حسب Weidong Zhang, Sergei Likhodii, Erfan Aref‐Eshghi, Yuhua Zhang, Patricia E. Harper, Edward Randell, Roger Green, Glynn Martin, Andrew Furey, Guang Sun, Proton Rahman, Guangju Zhai

    منشور في 2015
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  13. 13
    Metabolomic analysis of human plasma reveals that arginine is depleted in knee osteoarthritis patients

    Metabolomic analysis of human plasma reveals that arginine is depleted in knee osteoarthritis patients حسب William Zhang, Guang Sun, Sergei Likhodii, M. Liu, Erfan Aref‐Eshghi, Patricia E. Harper, Glynn Martin, Andrew Furey, R. Green, Edward Randell, Proton Rahman, Guangju Zhai

    منشور في 2015
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  14. 14
    Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1

    Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1 حسب Daniel E. Martin‐Herranz, Erfan Aref‐Eshghi, Marc Jan Bonder, Thomas M. Stubbs, Sanaa Choufani, Rosanna Weksberg, Oliver Stegle, Bekim Sadiković, Wolf Reik, Janet M. Thornton

    منشور في 2019
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  15. 15
    Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

    Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels حسب Jennifer Kerkhof, Laila C. Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref‐Eshghi, Alan Stuart, C. Anthony Rupar, Paul C. Adams, Robert A. Hegele, Hanxin Lin, David I. Rodenhiser, Joan H.M. Knoll, Peter Ainsworth, Bekim Sadiković

    منشور في 2017
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  16. 16
    Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

    Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes حسب Erfan Aref‐Eshghi, David I. Rodenhiser, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L. Hood, Dennis E. Bulman, Kristin D. Kernohan, Kym M. Boycott, Philippe M. Campeau, Charles E. Schwartz, Bekim Sadiković

    منشور في 2018
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  17. 17
    DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

    DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome حسب Laila C. Schenkel, Erfan Aref‐Eshghi, Kathleen Rooney, Jennifer Kerkhof, Michael A. Levy, Hannah McConkey, R. Curtis Rogers, Katy Phelan, Sara M. Sarasua, Lavanya Jain, Rini Pauly, Luigi Boccuto, Barbara R. DuPont, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Charles E. Schwartz, Bekim Sadiković

    منشور في 2021
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  18. 18
    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature حسب Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia

    منشور في 2020
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  19. 19
    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome حسب Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers, Sara Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather L. Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Paul R. Mark, Hákon Hákonarson, Laurie Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David I. Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadiković

    منشور في 2019
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  20. 20
    Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

    Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions حسب Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, Maha Saleh, Arthur L. Beaudet, Chumei Li, Maryia Kozenko, Natalya Karp, Chitra Prasad, Victoria Mok Siu, Mark A. Tarnopolsky, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Ian D. Krantz, Matthew A. Deardorff, Charles E. Schwartz, Bekim Sadiković

    منشور في 2019
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