Search Results - Funke, Birgit

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  1. 1
    Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis

    Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis by Choudhry, Priya, Joshi, Deepa, Funke, Birgit, Trede, Nikolaus

    Published 2010
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  2. 2
    The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers

    The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers by Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.

    Published 2016
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  3. 3
    Dilated Cardiomyopathy

    Dilated Cardiomyopathy by Lakdawala, Neal K., Winterfield, Jeffery R., Funke, Birgit H.

    Published 2012
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  4. 4
    Targeted Sequencing Using Affymetrix CustomSeq Arrays

    Targeted Sequencing Using Affymetrix CustomSeq Arrays by Teekakirikul, Polakit, Cox, Stephanie, Funke, Birgit, Rehm, Heidi L.

    Published 2011
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  5. 5
    NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes

    NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes by Ceyhan-Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason-Suares, Heather

    Published 2018
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  6. 6
    Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

    Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy by McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan

    Published 2013
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  7. 7
    DTNBP1 Genotype Influences Cognitive Decline in Schizophrenia

    DTNBP1 Genotype Influences Cognitive Decline in Schizophrenia by Burdick, Katherine E., Goldberg, Terry E., Funke, Birgit, Bates, John A., Lencz, Todd, Kucherlapati, Raju, Malhotra, Anil K.

    Published 2006
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  8. 8
    Association of the DTNBP1 Locus with Schizophrenia in a U.S. Population

    Association of the DTNBP1 Locus with Schizophrenia in a U.S. Population by Funke, Birgit, Finn, Christine T., Plocik, Alex M., Lake, Stephen, DeRosse, Pamela, Kane, John M., Kucherlapati, Raju, Malhotra, Anil K.

    Published 2004
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  9. 9
    Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project

    Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project by Wilcox, Emma, Harrison, Steven M., Lockhart, Edward, Voelkerding, Karl, Lubin, Ira M., Rehm, Heidi L., Kalman, Lisa V., Funke, Birgit

    Published 2021
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  10. 10
    A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice

    A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice by Hiroi, Noboru, Zhu, Hongwen, Lee, MoonSook, Funke, Birgit, Arai, Makoto, Itokawa, Masanari, Kucherlapati, Raju, Morrow, Bernice, Sawamura, Takehito, Agatsuma, Soh

    Published 2005
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  11. 11
    NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy

    NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy by Man, Elim, Lafferty, Katherine A, Funke, Birgit H, Lun, Kin-Shing, Chan, Shu-Yan, Chau, Adolphus Kai-Tung, Chung, Brian Hon-Yin

    Published 2013
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  12. 12
    VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

    VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data by Pugh, Trevor J., Amr, Sami S., Bowser, Mark J., Gowrisankar, Sivakumar, Hynes, Elizabeth, Mahanta, Lisa M., Rehm, Heidi L., Funke, Birgit, Lebo, Matthew S.

    Published 2016
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  13. 13
    COMT genetic variation confers risk for psychotic and affective disorders: a case control study

    COMT genetic variation confers risk for psychotic and affective disorders: a case control study by Funke, Birgit, Malhotra, Anil K, Finn, Christine T, Plocik, Alex M, Lake, Stephen L, Lencz, Todd, DeRosse, Pamela, Kane, John M, Kucherlapati, Raju

    Published 2005
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  14. 14
    A Gender-Moderated Effect of a Functional COMT Polymorphism on Prefrontal Brain Morphology and Function in Velo-cardio-facial Syndrome (22q11.2 Deletion Syndrome)

    A Gender-Moderated Effect of a Functional COMT Polymorphism on Prefrontal Brain Morphology and Function in Velo-cardio-facial Syndrome (22q11.2 Deletion Syndrome) by Kates, Wendy R., Antshel, Kevin M., AbdulSabur, Nuria, Colgan, Deirdre, Funke, Birgit, Fremont, Wanda, Higgins, Anne Marie, Kucherlapati, Raju, Shprintzen, Robert J.

    Published 2006
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  15. 15
    A Role for the CHC22 Clathrin Heavy Chain Isoform in Human Glucose Metabolism

    A Role for the CHC22 Clathrin Heavy Chain Isoform in Human Glucose Metabolism by Vassilopoulos, Stéphane, Esk, Christopher, Hoshino, Sachiko, Funke, Birgit H., Chen, Chih-Ying, Plocik, Alex M., Wright, Woodring E., Kucherlapati, Raju, Brodsky, Frances M.

    Published 2009
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  16. 16
    Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant

    Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant by Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H, Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas D., Hong, Charles C.

    Published 2011
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  17. 17
    Genetic Misdiagnoses and the Potential for Health Disparities

    Genetic Misdiagnoses and the Potential for Health Disparities by Manrai, Arjun K., Funke, Birgit H., Rehm, Heidi L., Olesen, Morten S., Maron, Bradley A., Szolovits, Peter, Margulies, David M., Loscalzo, Joseph, Kohane, Isaac S.

    Published 2016
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  18. 18
    Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

    Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies by Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.

    Published 2015
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  19. 19
    Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders

    Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders by Funke, Birgit H, Lencz, Todd, Finn, Christine T, DeRosse, Pamela, Poznik, G David, Plocik, Alex M, Kane, John, Rogus, John, Malhotra, Anil K, Kucherlapati, Raju

    Published 2007
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  20. 20
    Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

    Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization by Puech, Anne, Saint-Jore, Bruno, Funke, Birgit, Gilbert, Debra J., Sirotkin, Howard, Copeland, Neal G., Jenkins, Nancy A., Kucherlapati, Raju, Morrow, Bernice, Skoultchi, Arthur I.

    Published 1997
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