Search Results - Heather C Mefford

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  1. 1
    Advancing epilepsy genetics in the genomic era

    Advancing epilepsy genetics in the genomic era by Candace T. Myers, Heather C. Mefford

    Published 2015
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  2. 2
    Recent advances in epilepsy genomics and genetic testing

    Recent advances in epilepsy genomics and genetic testing by Malavika Hebbar, Heather C. Mefford

    Published 2020
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  3. 3
    Duplication hotspots, rare genomic disorders, and common disease

    Duplication hotspots, rare genomic disorders, and common disease by Heather C. Mefford, Evan E. Eichler

    Published 2009
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  4. 4
    Epilepsy and the new cytogenetics

    Epilepsy and the new cytogenetics by John C. Mulley, Heather C. Mefford

    Published 2011
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  5. 5
    Poison exons in neurodevelopment and disease

    Poison exons in neurodevelopment and disease by Gemma L. Carvill, Heather C. Mefford

    Published 2020
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  6. 6
    Primer Part 1—The building blocks of epilepsy genetics

    Primer Part 1—The building blocks of epilepsy genetics by Ingo Helbig, Erin L. Heinzen, Heather C. Mefford

    Published 2016
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  7. 7
    Genomics, Intellectual Disability, and Autism

    Genomics, Intellectual Disability, and Autism by Heather C. Mefford, Mark L. Batshaw, Eric P. Hoffman

    Published 2012
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  8. 8
    The Genetics of Microdeletion and Microduplication Syndromes: An Update

    The Genetics of Microdeletion and Microduplication Syndromes: An Update by Corey T. Watson, Tomàs Marquès‐Bonet, Andrew J. Sharp, Heather C. Mefford

    Published 2014
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  9. 9
    A homozygous<i>B3GAT3</i>mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

    A homozygous<i>B3GAT3</i>mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes by Kelly L. Jones, Ulrike Schwarze, Margaret P Adam, Peter H. Byers, Heather C. Mefford

    Published 2015
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  10. 10
    Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

    Clinical phenotype of ASD-associated DYRK1A haploinsufficiency by Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer Gerdts, Evan E. Eichler, Raphael Bernier

    Published 2017
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  11. 11
    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy by Xiuhua Bozarth, Jennifer N. Dines, Qian Cong, Ghayda Mirzaa, Kimberly Foss, J. Lawrence Merritt, Jenny Thies, Heather C. Mefford, Edward J. Novotny

    Published 2018
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  12. 12
    Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

    Copy number variants are frequent in genetic generalized epilepsy with intellectual disability by Saul A. Mullen, Gemma L. Carvill, Susannah T. Bellows, Marta A. Bayly, Samuel F. Berkovic, Leanne M. Dibbens, Ingrid E. Scheffer, Heather C. Mefford

    Published 2013
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  13. 13
    SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

    SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) by Brett S. Abrahams, Dan E. Arking, Jerry L. Campbell, Heather C. Mefford, Eric M. Morrow, Lauren A. Weiss, Idan Menashe, Tim Wadkins, Sharmila Banerjee‐Basu, Alan Packer

    Published 2013
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  14. 14
    Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including <i>RUNX2</i> duplication in two cousins with metopic craniosynostosis

    Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including <i>RUNX2</i> duplication in two cousins with metopic craniosynostosis by Heather C Mefford, Neil Shafer, Francesca Antonacci, Jesse Tsai, Sarah S. Park, Anne Hing, Mark J. Rieder, Matthew D. Smyth, Matthew L. Speltz, Evan E. Eichler, Michael L. Cunningham

    Published 2010
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  15. 15
    A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

    A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease by Heather C Mefford, Gregory M. Cooper, Troy Zerr, Joshua D. Smith, Carl Baker, Neil Shafer, Erik C. Thorland, Cindy Skinner, Charles E. Schwartz, Deborah A. Nickerson, Evan E. Eichler

    Published 2009
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  16. 16
    The genetic landscape of infantile spasms

    The genetic landscape of infantile spasms by Jacques L. Michaud, Mathieu Lachance, Fadi F. Hamdan, Lionel Carmant, Anne Lortie, Paola Diadori, Philippe Major, Inge A. Meijer, Emmanuelle Lemyre, Patrick Cossette, Heather C. Mefford, Guy A. Rouleau, Elsa Rossignol

    Published 2014
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  17. 17
    Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

    Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy by Heather C. Mefford, Séverine Clauin, Andrew J. Sharp, Rikke S. Møller, Reinhard Ullmann, Raj P. Kapur, Dan Pinkel, Gregory M. Cooper, Mario Ventura, Hans‐Hilger Ropers, Niels Tommerup, Evan E. Eichler, Christine Bellanné‐Chantelot

    Published 2007
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  18. 18
    A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy

    A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy by Katherine B. Howell, Stefanie Eggers, Kim Dalziel, Jessica R. Riseley, Simone Mandelstam, Candace T. Myers, Jacinta M. McMahon, Amy L. Schneider, Gemma L. Carvill, Heather C. Mefford, Ingrid E. Scheffer, A. Simon Harvey

    Published 2018
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  19. 19
    STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

    STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci by Harriet Dashnow, Brent S. Pedersen, Laurel Hiatt, Joe Brown, Sarah J. Beecroft, Gianina Ravenscroft, Amy Lacroix, Phillipa J. Lamont, Richard Roxburgh, Miriam Rodrigues, Mark R. Davis, Heather C. Mefford, Nigel G. Laing, Aaron R. Quinlan

    Published 2022
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  20. 20
    Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

    Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease by Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, R Myers, Paul M. Ridker, Daniel I. Chasman, Heather C. Mefford, Phyllis Ying, Deborah A. Nickerson, Evan E. Eichler

    Published 2009
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