Search Results - Conlin, Laura

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  1. 1
    The Natural Osmolyte Trehalose Is a Positive Regulator of the Heat-Induced Activity of Yeast Heat Shock Transcription Factor

    The Natural Osmolyte Trehalose Is a Positive Regulator of the Heat-Induced Activity of Yeast Heat Shock Transcription Factor by Conlin, Laura K., Nelson, Hillary C. M.

    Published 2007
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  2. 2
    A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

    A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data by Rajagopalan, Ramakrishnan, Murrell, Jill R., Luo, Minjie, Conlin, Laura K.

    Published 2020
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  3. 3
    Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock

    Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock by Dashnau, Jennifer L., Conlin, Laura K., Nelson, Hillary C. M., Vanderkooi, Jane M.

    Published 2007
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  4. 4
    Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

    Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood by Shackelford, Amy L., Conlin, Laura K., Hummel, Marybeth, Spinner, Nancy B., Wenger, Sharon L.

    Published 2013
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  5. 5
    Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

    Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR by Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke

    Published 2016
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  6. 6
    DOCK3-related neurodevelopmental syndrome: Biallelic Intragenic Deletion of DOCK3 in a Boy with Developmental Delay and Hypotonia

    DOCK3-related neurodevelopmental syndrome: Biallelic Intragenic Deletion of DOCK3 in a Boy with Developmental Delay and Hypotonia by Iwata-Otsubo, Aiko, Ritter, Alyssa L., Weckselbatt, Brooke, Ryan, Nicole R., Burgess, David, Conlin, Laura K., Izumi, Kosuke

    Published 2017
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  7. 7
    Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome

    Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome by Kaur, Maninder, Izumi, Kosuke, Wilkens, Alisha B., Chatfield, Kathryn C., Spinner, Nancy B., Conlin, Laura K., Zhang, Zhe, Krantz, Ian D.

    Published 2014
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  8. 8
    Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

    Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders by Hu, Xiaolin, Baker, Elizabeth K., Johnson, Jodie, Balow, Stephanie, Pena, Loren D. M., Conlin, Laura K., Guan, Qiaoning, Smolarek, Teresa A.

    Published 2022
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  9. 9
    Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

    Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism by Li, Dong, Strong, Alanna, Hou, Cuiping, Downes, Helen, Pritchard, Amanda Barone, Mazzeo, Pamela, Zackai, Elaine H., Conlin, Laura K., Hakonarson, Hakon

    Published 2022
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  10. 10
    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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  11. 11
    CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

    CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops by Shah, Sohela, Conlin, Laura K., Gomez, Luis, Aagenaes, Øystein, Eiklid, Kristin, Knisely, A. S., Mennuti, Michael T., Matthews, Randolph P., Spinner, Nancy B., Bull, Laura N.

    Published 2013
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  12. 12
    Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation

    Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation by Daber, Robert D., Chapman, Kimberly A., Ruchelli, Eduardo, Kasperski, Stefanie, Mulchandani, Surabhi, Thiel, Brian D., Hakonarson, Hakon, Zackai, Elaine H., Conlin, Laura K., Spinner, Nancy B.

    Published 2011
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  13. 13
    Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

    Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results by Rajagopalan, Ramakrishnan, Gilbert, Melissa A., McEldrew, Deborah A., Nassur, James A., Loomes, Kathleen M., Piccoli, David A., Krantz, Ian D., Conlin, Laura K., Spinner, Nancy B.

    Published 2020
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  14. 14
    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis by Conlin, Laura K., Thiel, Brian D., Bonnemann, Carsten G., Medne, Livija, Ernst, Linda M., Zackai, Elaine H., Deardorff, Matthew A., Krantz, Ian D., Hakonarson, Hakon, Spinner, Nancy B.

    Published 2010
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  15. 15
    Mechanisms of ring chromosome formation, ring instability and clinical consequences

    Mechanisms of ring chromosome formation, ring instability and clinical consequences by Guilherme, Roberta S, Ayres Meloni, Vera F, Kim, Chong A, Pellegrino, Renata, Takeno, Sylvia S, Spinner, Nancy B, Conlin, Laura K, Christofolini, Denise M, Kulikowski, Leslie D, Melaragno, Maria I

    Published 2011
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  16. 16
    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum

    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum by Li, Qiaoli, Brodsky, Jill L., Conlin, Laura K., Pawel, Bruce, Glatz, Andrew C., Gafni, Rachel I., Schurgers, Leon, Uitto, Jouni, Hakonarson, Hakon, Deardorff, Matthew A., Levine, Michael A.

    Published 2013
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  17. 17
    EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

    EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features by Ganetzky, Rebecca, Finn, Erin, Bagchi, Atrish, Zollo, Ornella, Conlin, Laura, Deardorff, Matthew, Harr, Margaret, Simpson, Michael A, McGrath, John A, Zackai, Elaine, Lemmon, Mark A, Sondheimer, Neal

    Published 2015
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  18. 18
    Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

    Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency by Gibson, Christopher E., Boodhansingh, Kara E., Li, Changhong, Conlin, Laura, Chen, Pan, Becker, Susan A., Bhatti, Tricia, Bamba, Vaneeta, Adzick, N. Scott, De Leon, Diva D., Ganguly, Arupa, Stanley, Charles A.

    Published 2018
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  19. 19
    Yield of Additional Genetic Testing after Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Yield of Additional Genetic Testing after Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: a clinical practice resource of the Americ... by Waggoner, Darrel, Wain, Karen E., Dubuc, Adrian M., Conlin, Laura, Hickey, Scott E., Lamb, Allen N, Lese Martin, Christa, Morton, Cynthia C., Rasmussen, Kristen, Schuette, Jane L, Schwartz, Stuart, Miller, David T.

    Published 2018
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  20. 20
    Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect

    Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect by Bhatti, Tricia R., Ganapathy, Karthik, Huppmann, Alison R., Conlin, Laura, Boodhansingh, Kara E., MacMullen, Courtney, Becker, Susan, Ernst, Linda M., Adzick, N. Scott, Ruchelli, Eduardo D., Ganguly, Arupa, Stanley, Charles A.

    Published 2016
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