Хайлтын үр дүнгүүд - Erfan Aref‐Eshghi

Үр дүнг сайжруулах
  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 -н Bekim Sadiković, Michael A. Levy, Erfan Aref‐Eshghi

    Хэвлэсэн 2020
    Бүрэн текст авах Бүрэн текст авах
    Revisão
    Жагсаалт руу хадгалах
    -д хадгалсан:
  2. 2
    Long‐read sequencing for molecular diagnostics in constitutional genetic disorders

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

    Хэвлэсэн 2022
    Бүрэн текст авах
    Revisão
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Erfan Aref‐Eshghi, Laila C. Schenkel, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Jean‐Claude Cutz, Bekim Sadiković

    Хэвлэсэн 2018
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  4. 4
    MALAT1: An Epigenetic Regulator of Inflammation in Diabetic Retinopathy

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

    Хэвлэсэн 2018
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Saumik Biswas, Biao Feng, Shali Chen, Jieting Liu, Erfan Aref‐Eshghi, John R. Gonder, Vy Ngo, Bekim Sadiković, Subrata Chakrabarti

    Хэвлэсэн 2021
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Erfan Aref‐Eshghi, Yuhua Zhang, Ming Liu, Patricia E. Harper, Glynn Martin, Andrew Furey, Roger Green, Guang Sun, Proton Rahman, Guangju Zhai

    Хэвлэсэн 2015
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Erfan Aref‐Eshghi, Ming Liu, Patricia E. Harper, Jules J.E. Doré, Glynn Martin, Andrew Furey, Roger Green, Proton Rahman, Guangju Zhai

    Хэвлэсэн 2015
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    Хэвлэсэн 2017
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Laila C. Schenkel, Erfan Aref‐Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    Хэвлэсэн 2018
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2017
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  11. 11
    Classification of osteoarthritis phenotypes by metabolomics analysis

    Classification of osteoarthritis phenotypes by metabolomics analysis -н 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

    Хэвлэсэн 2014
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2015
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2015
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2019
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2017
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2018
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2021
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2020
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2019
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2019
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:

Хайх хэрэгслүүд: