Resultats de la cerca - 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 per Santhosh Girirajan

    Publicat 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 per Matthew Jensen, Santhosh Girirajan

    Publicat 2019
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  3. 3
    Smith–Magenis syndrome

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

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

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

    Publicat 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 per Andrew Polyak, Richard M. Kubina, Santhosh Girirajan

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

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

    Publicat 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 per Christine Queitsch, Keisha D. Carlson, Santhosh Girirajan

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

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

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

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

    Publicat 2012
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  10. 10
    A genetic model for neurodevelopmental disease

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

    Publicat 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 per Qingyu Wang, Cooduvalli S. Shashikant, Matthew Jensen, Naomi Altman, Santhosh Girirajan

    Publicat 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 per Vijay Kumar Pounraja, Gopal Jayakar, Matthew Jensen, Neil Kelkar, Santhosh Girirajan

    Publicat 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... per Brooke Burns, Kristie Schmidt, Stephen R. Williams, Sun Kim, Santhosh Girirajan, Sarah H. Elsea

    Publicat 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 per Julie Chow, Matthew Jensen, Hajar Amini, Farhad Hormozdiari, Osnat Penn, Sagiv Shifman, Santhosh Girirajan, Fereydoun Hormozdiari

    Publicat 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 per Jill A. Rosenfeld, Justine Coppinger, Bassem A. Bejjani, Santhosh Girirajan, Evan E. Eichler, Lisa G. Shaffer, Blake C. Ballif

    Publicat 2009
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  16. 16
    Epigenetics of Autism-related Impairment

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

    Publicat 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 per Santhosh Girirajan, Christopher N. Vlangos, Barbara Szomju, Emily Edelman, Christopher D. Trevors, Lucie Dupuis, Marjan M. Nezarati, David J. Bunyan, Sarah H. Elsea

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

    Autosomal Dominant Familial Dyskinesia and Facial Myokymia per 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

    Publicat 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 per 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

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

    Rare copy number variation in cerebral palsy per 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

    Publicat 2013
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