Search Results - Clark, Dinah

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  1. 1
    Investigation of Autistic Features Among Individuals With Mild to Moderate Cornelia de Lange Syndrome

    Investigation of Autistic Features Among Individuals With Mild to Moderate Cornelia de Lange Syndrome by Nakanishi, Mariko, Deardorff, Matthew A., Clark, Dinah, Levy, Susan E., Krantz, Ian, Pipan, Mary

    Published 2012
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  2. 2
    The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome

    The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome by Lambert, Michele P., Jackson, Laird G., Clark, Dinah, Kaur, Mani, Krantz, Ian D., Deardorff, Matthew A.

    Published 2010
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  3. 3
    Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey

    Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey by Rohatgi, Sarika, Clark, Dinah, Kline, Antonie D., Jackson, Laird G., Pie, Juan, Siu, Victoria, Ramos, Feliciano J., Krantz, Ian D., Deardorff, Matthew A.

    Published 2010
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  4. 4
    Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory's Experience

    Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory's Experience by Chaperon, Jessica L., Wemmer, Nina M., McKanna, Trudy A., Clark, Dinah M., Westemeyer, Maggie A., Gauthier, Philippe, Bai, Yan, Coleman, Jessica M.

    Published 2021
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  5. 5
    Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors

    Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors by Singh, Gurmukteshwar, Gohh, Reginald, Clark, Dinah, Kalra, Kartik, Das, Manoj, Bradauskaite, Gitana, Bleyer, Anthony J., Tanriover, Bekir, Chang, Alex R., Anand, Prince M.

    Published 2022
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  6. 6
    Two Siblings with Alternate Unbalanced Recombinants Derived from a Large Cryptic Maternal Pericentric Inversion of Chromosome 20

    Two Siblings with Alternate Unbalanced Recombinants Derived from a Large Cryptic Maternal Pericentric Inversion of Chromosome 20 by DeScipio, Cheryl, Morrissette, Jennifer J.D., Conlin, Laura K., Clark, Dinah, Kaur, Maninder, Coplan, James, Riethman, Harold, Spinner, Nancy B., Krantz, Ian D.

    Published 2010
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  7. 7
    Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies

    Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies by Clark, Dinah M., Sherer, Ilana, Deardorff, Matthew A., Byrne, Janice L.B., Loomes, Kathleen M., Nowaczyk, Malgorzata J.M., Jackson, Laird G., Krantz, Ian D.

    Published 2012
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  8. 8
    Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis

    Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis by Chatfield, Kathryn C., Schrier, Samantha A., Li, Jennifer, Clark, Dinah, Kaur, Maninder, Kline, Antonie D., Deardorff, Matthew A., Jackson, Laird S., Goldmuntz, Elizabeth, Krantz, Ian D.

    Published 2012
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  9. 9
    Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature

    Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature by Schrier, Samantha A., Sherer, Ilana, Deardorff, Matthew A., Clark, Dinah, Audette, Lynn, Gillis, Lynette, Kline, Antonie D., Ernst, Linda, Loomes, Kathy, Krantz, Ian D., Jackson, Laird G.

    Published 2011
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  10. 10
    Homozygosity for the V37I GJB2 Mutation in Fifteen Probands with Mild to Moderate Sensorineural Hearing Impairment: Further Confirmation of Pathogenicity and Haplotype Analysis in Asian Populations

    Homozygosity for the V37I GJB2 Mutation in Fifteen Probands with Mild to Moderate Sensorineural Hearing Impairment: Further Confirmation of Pathogenicity and Haplotype Analysis in... by Gallant, Emily, Francey, Lauren, Tsai, Ellen A., Berman, Micah, Zhao, Yaru, Fetting, Heather, Kaur, Maninder, Deardorff, Matthew A., Wilkens, Alisha, Clark, Dinah, Hakonarson, Hakon, Rehm, Heidi, Krantz, Ian D.

    Published 2013
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  11. 11
    SMC1A Expression and Mechanism of Pathogenicity in Probands with X-linked Cornelia de Lange Syndrome

    SMC1A Expression and Mechanism of Pathogenicity in Probands with X-linked Cornelia de Lange Syndrome by Liu, Jinglan, Feldman, Rachel, Zhang, Zhe, Deardorff, Matthew A., Haverfield, Eden V., Kaur, Maninder, Li, Jennifer R., Clark, Dinah, Kline, Antonie D., Waggoner, Darrel J., Das, Soma, Jackson, Laird G., Krantz, Ian D.

    Published 2009
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  12. 12
    Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

    Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells by Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Clark, Dinah, Kaur, Maninder, Tandy, Stephany, Kondoh, Tatsuro, Rappaport, Eric, Spinner, Nancy B., Vega, Hugo, Jackson, Laird G., Shirahige, Katsuhiko, Krantz, Ian D.

    Published 2009
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  13. 13
    Clinical Report: Germline Mosaicism in Cornelia de Lange Syndrome

    Clinical Report: Germline Mosaicism in Cornelia de Lange Syndrome by Slavin, Thomas P., Lazebnik, Noam, Clark, Dinah M., Vengoechea, Jaime, Cohen, Leslie, Kaur, Maninder, Konczal, Laura, Crowe, Carol A., Corteville, Jane E., Nowaczyk, Malgorzata J., Byrne, Janice L., Jackson, Laird G., Krantz, Ian D.

    Published 2012
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  14. 14
    Genome-wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment

    Genome-wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment by Francey, Lauren J, Conlin, Laura K, Kadesch, Hanna E, Clark, Dinah, Berrodin, Donna, Sun, Yi, Glessner, Joe, Hakonarson, Hakon, Jalas, Chaim, Landau, Chaim, Spinner, Nancy B, Kenna, Margaret, Sagi, Michal, Rehm, Heidi L, Krantz, Ian D

    Published 2011
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  15. 15
    Genome-wide DNA methylation analysis in cohesin mutant human cell lines

    Genome-wide DNA methylation analysis in cohesin mutant human cell lines by Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Li, Jennifer R., Clark, Dinah, Kaur, Maninder, Tatsuro, Kondo, Kline, Antonie D., Chang, Celia, Vega, Hugo, Jackson, Laird G., Spinner, Nancy B., Shirahige, Katsuhiko, Krantz, Ian D.

    Published 2010
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  16. 16
    SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation

    SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation by Kamath, Binita M., Thiel, Brian D., Gai, Xiaowu, Conlin, Laura K., Munoz, Pedro S., Glessner, Joseph, Clark, Dinah, Warthen, Daniel M., Shaikh, Tamim H., Mihci, Ercan, Piccoli, David A., Grant, Struan F.A., Hakonarson, Hakon, Krantz, Ian D., Spinner, Nancy B.

    Published 2009
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  17. 17
    PECONPI: A Novel Software for Uncovering Pathogenic Copy Number Variations in Non-Syndromic Sensorineural Hearing Loss and Other Genetically Heterogeneous Disorders

    PECONPI: A Novel Software for Uncovering Pathogenic Copy Number Variations in Non-Syndromic Sensorineural Hearing Loss and Other Genetically Heterogeneous Disorders by Tsai, Ellen A, Berman, Micah A, Conlin, Laura K, Rehm, Heidi L, Francey, Lauren J, Deardorff, Matthew A, Holst, Jenelle, Kaur, Maninder, Gallant, Emily, Clark, Dinah M, Glessner, Joseph T, Jensen, Shane T, Grant, Struan FA, Gruber, Peter J, Hakonarson, Hakon, Spinner, Nancy B, Krantz, Ian D

    Published 2013
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  18. 18
    Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

    Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction by Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J

    Published 2012
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  19. 19
    Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

    Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction by Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J

    Published 2012
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  20. 20
    Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

    Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin by Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C., Noon, Sarah, Dulik, Matthew C., Rajagopalan, Ramkakrishnan, Venditti, Charles P., Gripp, Karen, Samanich, Joy, Zackai, Elaine H., Deardorff, Matthew A., Clark, Dinah, Allen, Julian L., Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D.

    Published 2015
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