檢索結果 - Laila C. Schenkel

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  1. 1
    Complexity in Genetic Epilepsies: A Comprehensive Review

    Complexity in Genetic Epilepsies: A Comprehensive Review 由 Cassandra Rastin, Laila C. Schenkel, Bekim Sadiković

    出版 2023
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    Revisão
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  2. 2
    Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array

    Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array 由 Laila C. Schenkel, Charles E. Schwartz, Cindy Skinner, David I. Rodenhiser, Peter Ainsworth, Guillaume Paré, Bekim Sadiković

    出版 2016
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    Artigo
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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 由 Erfan Aref‐Eshghi, Laila C. Schenkel, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Jean‐Claude Cutz, Bekim Sadiković

    出版 2018
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    Artigo
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  4. 4
    The defining DNA methylation signature of Floating-Harbor Syndrome

    The defining DNA methylation signature of Floating-Harbor Syndrome 由 Rebecca L. Hood, Laila C. Schenkel, Sarah M. Nikkel, Peter Ainsworth, Guillaume Paré, Kym M. Boycott, Dennis E. Bulman, Bekim Sadiković

    出版 2016
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  5. 5
    Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

    Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy 由 Kristin D. Kernohan, Laila C. Schenkel, Lijia Huang, Amanda Smith, Guillaume Paré, Peter Ainsworth, Kym M. Boycott, Jodi Warman‐Chardon, Bekim Sadiković

    出版 2016
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    Artigo
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  6. 6
    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 由 Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    出版 2017
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    Artigo
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  7. 7
    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 由 Laila C. Schenkel, Erfan Aref‐Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    出版 2018
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    Artigo
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  8. 8
    An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis

    An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis 由 Ala Almanaseer, Benjamin Chin‐Yee, Jenny Ho, Alejandro Lazo‐Langner, Laila C. Schenkel, Pratibha Bhai, Bekim Sadiković, Ian Chin‐Yee, Cyrus C. Hsia

    出版 2024
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    Artigo
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  9. 9
    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 由 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

    出版 2017
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    Artigo
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  10. 10
    Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

    Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Ana... 由 Laila C. Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside, Alexander Levstik, Christopher J. Howlett, Anthony Rupar, Joan H.M. Knoll, Peter Ainsworth, John S. Waye, Bekim Sadiković

    出版 2016
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    Artigo
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  11. 11
    Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

    Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome 由 Laila C. Schenkel, Kristin D. Kernohan, Arran McBride, Reina Ditta, Amanda Hodge, Peter Ainsworth, David I. Rodenhiser, Guillaume Paré, Nathalie G. Bérubé, Cindy Skinner, Kym M. Boycott, Charles E. Schwartz, Bekim Sadiković

    出版 2017
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  12. 12
    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 由 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

    出版 2017
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    Artigo
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  13. 13
    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 由 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

    出版 2018
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    Artigo
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  14. 14
    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 由 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

    出版 2021
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    Artigo
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  15. 15
    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes 由 Erfan Aref‐Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C.S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. M. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadiković

    出版 2018
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    Artigo
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  16. 16
    Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

    Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders 由 Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof, Erfan Aref‐Eshghi, Laila C. Schenkel, Alan Stuart, Haley McConkey, Peter Henneman, Andrea Venema, Charles E. Schwartz, Roger E. Stevenson, Steven A. Skinner, Barbara R. DuPont, Robin S. Fletcher, Tuğçe B. Balcı, Victoria Mok Siu, Jorge L. Granadillo, Jennefer Masters, Mike Kadour, Michael J. Friez, Mieke M. van Haelst, Marcel M.A.M. Mannens, Raymond J. Louie, Jennifer A. Lee, Matthew L. Tedder, Mariëlle Alders

    出版 2021
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    Artigo
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