Søgeresultater - Santhosh Girirajan

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  1. 1
    RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

    RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions af Santhosh Girirajan

    Udgivet 2005
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  2. 2
    An interaction-based model for neuropsychiatric features of copy-number variants

    An interaction-based model for neuropsychiatric features of copy-number variants af Matthew Jensen, Santhosh Girirajan

    Udgivet 2019
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  3. 3
    Smith–Magenis syndrome

    Smith–Magenis syndrome af Sarah H. Elsea, Santhosh Girirajan

    Udgivet 2008
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  4. 4
    Phenotypic variability and genetic susceptibility to genomic disorders

    Phenotypic variability and genetic susceptibility to genomic disorders af Santhosh Girirajan, Evan E. Eichler

    Udgivet 2010
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  5. 5
    Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis

    Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis af Andrew Polyak, Richard M. Kubina, Santhosh Girirajan

    Udgivet 2015
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  6. 6
    An assessment of sex bias in neurodevelopmental disorders

    An assessment of sex bias in neurodevelopmental disorders af Andrew Polyak, Jill A. Rosenfeld, Santhosh Girirajan

    Udgivet 2015
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  7. 7
    Lessons from Model Organisms: Phenotypic Robustness and Missing Heritability in Complex Disease

    Lessons from Model Organisms: Phenotypic Robustness and Missing Heritability in Complex Disease af Christine Queitsch, Keisha D. Carlson, Santhosh Girirajan

    Udgivet 2012
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  8. 8
    Human Copy Number Variation and Complex Genetic Disease

    Human Copy Number Variation and Complex Genetic Disease af Santhosh Girirajan, Colin Campbell, Evan E. Eichler

    Udgivet 2011
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  9. 9
    The genetic variability and commonality of neurodevelopmental disease

    The genetic variability and commonality of neurodevelopmental disease af Bradley P. Coe, Santhosh Girirajan, Evan E. Eichler

    Udgivet 2012
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  10. 10
    A genetic model for neurodevelopmental disease

    A genetic model for neurodevelopmental disease af Bradley P. Coe, Santhosh Girirajan, Evan E. Eichler

    Udgivet 2012
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  11. 11
    Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity

    Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity af Qingyu Wang, Cooduvalli S. Shashikant, Matthew Jensen, Naomi Altman, Santhosh Girirajan

    Udgivet 2017
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  12. 12
    A machine-learning approach for accurate detection of copy number variants from exome sequencing

    A machine-learning approach for accurate detection of copy number variants from exome sequencing af Vijay Kumar Pounraja, Gopal Jayakar, Matthew Jensen, Neil Kelkar, Santhosh Girirajan

    Udgivet 2019
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  13. 13
    <i>Rai1</i> haploinsufficiency causes reduced <i>Bdnf</i> expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

    <i>Rai1</i> haploinsufficiency causes reduced <i>Bdnf</i> expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic... af Brooke Burns, Kristie Schmidt, Stephen R. Williams, Sun Kim, Santhosh Girirajan, Sarah H. Elsea

    Udgivet 2010
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  14. 14
    Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

    Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders af Julie Chow, Matthew Jensen, Hajar Amini, Farhad Hormozdiari, Osnat Penn, Sagiv Shifman, Santhosh Girirajan, Fereydoun Hormozdiari

    Udgivet 2019
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  15. 15
    Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

    Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications af Jill A. Rosenfeld, Justine Coppinger, Bassem A. Bejjani, Santhosh Girirajan, Evan E. Eichler, Lisa G. Shaffer, Blake C. Ballif

    Udgivet 2009
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  16. 16
    Epigenetics of Autism-related Impairment

    Epigenetics of Autism-related Impairment af Varvara Mazina, Jennifer Gerdts, Sandy Trinh, Katy Ankenman, Tracey Ward, Megan Y. Dennis, Santhosh Girirajan, Evan E. Eichler, Raphael Bernier

    Udgivet 2015
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  17. 17
    Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

    Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum af Santhosh Girirajan, Christopher N. Vlangos, Barbara Szomju, Emily Edelman, Christopher D. Trevors, Lucie Dupuis, Marjan M. Nezarati, David J. Bunyan, Sarah H. Elsea

    Udgivet 2006
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  18. 18
    Autosomal Dominant Familial Dyskinesia and Facial Myokymia

    Autosomal Dominant Familial Dyskinesia and Facial Myokymia af Ying Zhang Chen, Mark Matsushita, Peggy D. Robertson, Mark J. Rieder, Santhosh Girirajan, Francesca Antonacci, Hillary Lipe, Evan E. Eichler, Deborah A. Nickerson, Thomas D. Bird, Wendy H. Raskind

    Udgivet 2012
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  19. 19
    Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

    Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder af Santhosh Girirajan, Megan Y. Dennis, Carl Baker, Maika Malig, Bradley P. Coe, Colin Campbell, Kenneth M. K. Mark, Tiffany Vu, Can Alkan, Ze Cheng, Leslie G. Biesecker, Raphael Bernier, Evan E. Eichler

    Udgivet 2013
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  20. 20
    Rare copy number variation in cerebral palsy

    Rare copy number variation in cerebral palsy af G. McMichael, Santhosh Girirajan, Andrés Moreno-De-Luca, Jozef Gécz, Chloé Shard, Lam Son Nguyen, Jillian Nicholl, Catherine Gibson, Eric Haan, Evan E. Eichler, Christa Lese Martin, Alastair H. MacLennan

    Udgivet 2013
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