Search Results - Konidari, Ioanna

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  1. 1
    Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

    Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54) by Gonzalez, Michael, Nampoothiri, Sheela, Kornblum, Cornelia, Oteyza, Andrés Caballero, Walter, Jochen, Konidari, Ioanna, Hulme, William, Speziani, Fiorella, Schöls, Ludger, Züchner, Stephan, Schüle, Rebecca

    Published 2013
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  2. 2
    Identification of Chromosome 7 Inversion Breakpoints in an Autistic Family Narrows Candidate Region for Autism Susceptibility

    Identification of Chromosome 7 Inversion Breakpoints in an Autistic Family Narrows Candidate Region for Autism Susceptibility by Cukier, Holly N., Skaar, David A., Rayner-Evans, Melissa Y., Konidari, Ioanna, Whitehead, Patrice L., Jaworski, James M., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.

    Published 2009
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  3. 3
    Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

    Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families by Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan

    Published 2012
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  4. 4
    Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

    Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families by Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan

    Published 2012
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  5. 5
    Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

    Novel variants identified in methyl-CpG-binding domain genes in autistic individuals by Cukier, Holly N., Rabionet, Raquel, Konidari, Ioanna, Rayner-Evans, Melissa Y., Baltos, Mary L., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.

    Published 2009
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  6. 6
    A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

    A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism by Hussman, John P, Chung, Ren-Hua, Griswold, Anthony J, Jaworski, James M, Salyakina, Daria, Ma, Deqiong, Konidari, Ioanna, Whitehead, Patrice L, Vance, Jeffery M, Martin, Eden R, Cuccaro, Michael L, Gilbert, John R, Haines, Jonathan L, Pericak-Vance, Margaret A

    Published 2011
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  7. 7
    Evaluating mitochondrial DNA variation in autism spectrum disorders

    Evaluating mitochondrial DNA variation in autism spectrum disorders by HADJIXENOFONTOS, ATHENA, SCHMIDT, MICHAEL A., WHITEHEAD, PATRICE L., KONIDARI, IOANNA, HEDGES, DALE J., WRIGHT, HARRY H., ABRAMSON, RUTH K., MENON, RAMKUMAR, WILLIAMS, SCOTT M., CUCCARO, MICHAEL L., HAINES, JONATHAN L., GILBERT, JOHN R., PERICAK-VANCE, MARGARET A., MARTIN, EDEN R., MCCAULEY, JACOB L.

    Published 2012
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  8. 8
    Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

    Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease by Edwards, Todd L., Scott, William K., Almonte, Cherylyn, Burt, Amber, Powell, Eric H., Beecham, Gary W., Wang, Liyong, Züchner, Stephan, Konidari, Ioanna, Wang, Gaofeng, Singer, Carlos, Nahab, Fatta, Scott, Burton, Stajich, Jeffrey M., Pericak-Vance, Margaret, Haines, Jonathan, Vance, Jeffery M., Martin, Eden R.

    Published 2010
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  9. 9
    An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

    An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males by Chung, Ren-Hua, Ma, Deqiong, Wang, Kai, Hedges, Dale J, Jaworski, James M, Gilbert, John R, Cuccaro, Michael L, Wright, Harry H, Abramson, Ruth K, Konidari, Ioanna, Whitehead, Patrice L, Schellenberg, Gerard D, Hakonarson, Hakon, Haines, Jonathan L, Pericak-Vance, Margaret A, Martin, Eden R

    Published 2011
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  10. 10
    Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

    Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk by Salyakina, Daria, Cukier, Holly N., Lee, Joycelyn M., Sacharow, Stephanie, Nations, Laura D., Ma, Deqiong, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.

    Published 2011
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  11. 11
    Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

    Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants by Griswold, Anthony J., Dueker, Nicole D., Van Booven, Derek, Rantus, Joseph A., Jaworski, James M., Slifer, Susan H., Schmidt, Michael A., Hulme, William, Konidari, Ioanna, Whitehead, Patrice L., Cuccaro, Michael L., Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Hussman, John P., Pericak-Vance, Margaret A.

    Published 2015
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  12. 12
    Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities

    Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities by Naj, Adam C., Beecham, Gary W., Martin, Eden R., Gallins, Paul J., Powell, Eric H., Konidari, Ioanna, Whitehead, Patrice L., Cai, Guiqing, Haroutunian, Vahram, Scott, William K., Vance, Jeffery M., Slifer, Michael A., Gwirtsman, Harry E., Gilbert, John R., Haines, Jonathan L., Buxbaum, Joseph D., Pericak-Vance, Margaret A.

    Published 2010
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  13. 13
    Linkage and association of successful aging to the 6q25 region in large Amish kindreds

    Linkage and association of successful aging to the 6q25 region in large Amish kindreds by Edwards, Digna R. Velez, Gilbert, John R., Hicks, James E., Myers, Jamie L., Jiang, Lan, Cummings, Anna C., Guo, Shengru, Gallins, Paul J., Konidari, Ioanna, Caywood, Laura, Reinhart-Mercer, Lori, Fuzzell, Denise, Knebusch, Claire, Laux, Renee, Jackson, Charles E., Pericak-Vance, Margaret A., Haines, Jonathan L., Scott, William K.

    Published 2012
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  14. 14
    Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene

    Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene by Cummings, Anna C., Jiang, Lan, Velez Edwards, Digna R., McCauley, Jacob L., Laux, Renee, McFarland, Lynne L., Fuzzell, Denise, Knebusch, Clare, Caywood, Laura, Reinhart-Mercer, Lori, Nations, Laura, Gilbert, John R., Konidari, Ioanna, Tramontana, Michael, Cuccaro, Michael L., Scott, William K., Pericak-Vance, Margaret A., Haines, Jonathan L.

    Published 2012
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  15. 15
    Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

    Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa by Züchner, Stephan, Dallman, Julia, Wen, Rong, Beecham, Gary, Naj, Adam, Farooq, Amjad, Kohli, Martin A., Whitehead, Patrice L., Hulme, William, Konidari, Ioanna, Edwards, Yvonne J.K., Cai, Guiqing, Peter, Inga, Seo, David, Buxbaum, Joseph D., Haines, Jonathan L., Blanton, Susan, Young, Juan, Alfonso, Eduardo, Vance, Jeffery M., Lam, Byron L., Peričak-Vance, Margaret A.

    Published 2011
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  16. 16
    Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

    Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways by Griswold, Anthony J., Ma, Deqiong, Cukier, Holly N., Nations, Laura D., Schmidt, Mike A., Chung, Ren-Hua, Jaworski, James M., Salyakina, Daria, Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.

    Published 2012
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  17. 17
    Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

    Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders by Cukier, Holly N, Dueker, Nicole D, Slifer, Susan H, Lee, Joycelyn M, Whitehead, Patrice L, Lalanne, Eminisha, Leyva, Natalia, Konidari, Ioanna, Gentry, Ryan C, Hulme, William F, Booven, Derek Van, Mayo, Vera, Hofmann, Natalia K, Schmidt, Michael A, Martin, Eden R, Haines, Jonathan L, Cuccaro, Michael L, Gilbert, John R, Pericak-Vance, Margaret A

    Published 2014
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  18. 18
    A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

    A genome-wide association study of autism reveals a common novel risk locus at 5p14.1 by Ma, DQ, Salyakina, Daria, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Andersen, Ashley N., Hoffman, Joshua D., Slifer, Susan H., Hedges, Dale J., Cukier, Holly N., McCauley, Jacob L., Beecham, Gary W., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Hussman, John P., Gilbert, John R., Cuccaro, Michael L., Haines, Jonathan L., Pericak-Vance., Margaret A.

    Published 2009
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  19. 19
    A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

    A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement by Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence CS, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren, Erica J, Allman, Denis, Millington-Ward, Sophia, Palfi, Arpad, McKee, Alex, Blanton, Susan H, Slifer, Susan, Konidari, Ioanna, Farrar, G Jane, Daiger, Stephen P, Humphries, Peter

    Published 2011
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  20. 20
    A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

    A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement by Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence C S, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren, Erica J, Allman, Denis, Millington-Ward, Sophia, Palfi, Arpad, McKee, Alex, Blanton, Susan H, Slifer, Susan, Konidari, Ioanna, Farrar, G Jane, Daiger, Stephen P, Humphries, Peter

    Published 2011
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