Результаты поиска - Swaroop Aradhya

Отмена результатов
  1. 1
    Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

    Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes по Swaroop Aradhya

    Опубликовано 2001
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    Artigo
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  2. 2
    Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ)

    Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ) по Swaroop Aradhya, Gilles Courtois, Aleks Rajkovic, Richard A. Lewis, Moise L. Levy, Alain Israël, David L. Nelson

    Опубликовано 2001
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    Artigo
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  3. 3
    Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

    Prevalence and properties of intragenic copy-number variation in Mendelian disease genes по Rebecca Truty, Joshua Paul, Michael Kennemer, Stephen E. Lincoln, Eric C. Olivares, Robert L. Nussbaum, Swaroop Aradhya

    Опубликовано 2018
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    Artigo
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  4. 4
    A novel variant in <i>GABRB2</i> associated with intellectual disability and epilepsy

    A novel variant in <i>GABRB2</i> associated with intellectual disability and epilepsy по Siddharth Srivastava, Julie S. Cohen, Jonathan Pevsner, Swaroop Aradhya, Dianalee McKnight, Elizabeth Butler, Michael V. Johnston, Ali Fatemi

    Опубликовано 2014
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    Artigo
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  5. 5
    Clinical Variant Reclassification in Hereditary Disease Genetic Testing

    Clinical Variant Reclassification in Hereditary Disease Genetic Testing по Yuya Kobayashi, Elaine Chen, Flavia M. Facio, Hillery C. Metz, Sarah Poll, Dan Swartzlander, Britt Johnson, Swaroop Aradhya

    Опубликовано 2024
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    Artigo
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  6. 6
    Applications of artificial intelligence in clinical laboratory genomics

    Applications of artificial intelligence in clinical laboratory genomics по Swaroop Aradhya, Flavia M. Facio, Hillery C. Metz, Toby Manders, Alexandre Colavin, Yuya Kobayashi, Keith Nykamp, Britt Johnson, Robert L. Nussbaum

    Опубликовано 2023
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    Revisão
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  7. 7
    Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

    Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation по Rebecca Truty, Karen Ouyang, Susan Rojahn, Sarah Garcia, Alexandre Colavin, Barbara Hamlington, Mary E. Freivogel, Robert L. Nussbaum, Keith Nykamp, Swaroop Aradhya

    Опубликовано 2021
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    Artigo
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  8. 8
    Optimizing Gene Panels for Equitable Reproductive Carrier Screening: the “Goldilocks” Approach

    Optimizing Gene Panels for Equitable Reproductive Carrier Screening: the “Goldilocks” Approach по Mia J Gruzin, Matthew Hobbs, Rachel E. Ellsworth, Sarah Poll, Sienna Aguilar, Jaysen Knezovich, Nicole Faulkner, Nola Olsen, Swaroop Aradhya, Leslie Burnett

    Опубликовано 2025
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    Artigo
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  9. 9
    Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

    Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders по Swaroop Aradhya, Rachel Lewis, Tahrra Bonaga, Nnenna Nwokekeh, Amanda Stafford, Barbara A. Boggs, Kathleen S. Hruska, Nizar Smaoui, John G. Compton, Gabriele Richard, Sharon F. Suchy

    Опубликовано 2012
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    Artigo
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  10. 10
    Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

    Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders по Thomas Winder, Christopher Tan, Sarah Klemm, Hannah L. White, Jody Westbrook, James Z. Wang, Ali Entezam, Rebecca Truty, Robert L. Nussbaum, Elizabeth M. McNally, Swaroop Aradhya

    Опубликовано 2020
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    Artigo
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  11. 11
    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.

    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings. по Dianalee McKnight, Sara L. Bristow, Rebecca Truty, Ana Morales, Molly Stetler, M. Jody Westbrook, Kristina Robinson, Darlene Riethmaier, Felippe Borlot, Marissa Kellogg, Sean Hwang, Anne T. Berg, Swaroop Aradhya

    Опубликовано 2022
    Artigo
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  12. 12
    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy

    Multigene Panel Testing in a Large Cohort of Adults With Epilepsy по Dianalee McKnight, Sara L. Bristow, Rebecca Truty, Ana Morales, Molly Stetler, M. Jody Westbrook, Kristina Robinson, Darlene Riethmaier, Felippe Borlot, Marissa Kellogg, Sean Hwang, Anne T. Berg, Swaroop Aradhya

    Опубликовано 2021
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    Artigo
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  13. 13
    Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories

    Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories по Kathryn E. Hatchell, Sarah Poll, Emily M. Russell, Trevor Williams, Rachel E. Ellsworth, Flavia M. Facio, Sienna Aguilar, Edward D. Esplin, Alice B. Popejoy, Robert L. Nussbaum, Swaroop Aradhya

    Опубликовано 2025
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    Revisão
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  14. 14
    A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

    A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations по Swaroop Aradhya, Hayley Woffendin, Tracy Jakins, Tiziana Bardaro, Teresa Esposito, Asma Smahi, Christine Shaw, Moise L. Levy, Arnold Munnich, Michele D’Urso, Richard A. Lewis, Sue Kenwrick, David L. Nelson

    Опубликовано 2001
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    Artigo
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  15. 15
    Towards an evidence‐based process for the clinical interpretation of copy number variation

    Towards an evidence‐based process for the clinical interpretation of copy number variation по ER Riggs, DM Church, Karen Hanson, VL Horner, E B Kaminsky, RM Kuhn, KE Wain, E. H. Williams, Swaroop Aradhya, HM Kearney, D H Ledbetter, ST South, EC Thorland, CL Martin

    Опубликовано 2011
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    Revisão
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  16. 16
    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... по Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Alastair J. Martin

    Опубликовано 2019
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    Artigo
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  17. 17
    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Gen... по Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Christa Lese Martin

    Опубликовано 2021
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    Errata/Corrigenda
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  18. 18
    Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

    Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort по Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda‐Alvarez, Amanda Stafford, Lindsay Schmidt, Stephanie Warren, Federica Gibellini, Anastasia Kondakova, A. D. Blair, Sherri J. Bale, Ludmila Matyakhina, Jeanne Meck, Swaroop Aradhya, Eden Haverfield

    Опубликовано 2014
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    Artigo
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  19. 19
    Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

    Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories по Karen D. Tsuchiya, Lisa G. Shaffer, Swaroop Aradhya, Julie M. Gastier‐Foster, Ankita Patel, M. Katharine Rudd, Julie Sanford Biggerstaff, Warren G. Sanger, Stuart Schwartz, James Tepperberg, Erik C. Thorland, Beth A. Torchia, Arthur R. Brothman

    Опубликовано 2009
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    Artigo
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  20. 20
    Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

    Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing по Elaine Chen, Flavia M. Facio, Kerry Aradhya, Susan Rojahn, Kathryn E. Hatchell, Sienna Aguilar, Karen Ouyang, Sulagna C. Saitta, Andrea K. Hanson-Kwan, Nicole Nakousi‐Capurro, Eriko Takamine, Saumya Shekhar Jamuar, Dianalee McKnight, Britt Johnson, Swaroop Aradhya

    Опубликовано 2023
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