Search Results - Hackett, Anna

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  1. 1
    Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

    Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? by Shoubridge, Cheryl, Gardner, Alison, Schwartz, Charles E, Hackett, Anna, Field, Michael, Gecz, Jozef

    Published 2012
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  2. 2
    The Third Wave: Comparing Seasonal Trends in COVID-19 Patient Data at a Large Hospital System in New York City

    The Third Wave: Comparing Seasonal Trends in COVID-19 Patient Data at a Large Hospital System in New York City by Tandon, Pranai, Leibner, Evan S., Hackett, Anna, Maguire, Katherine, Mashriqi, Nazia, Kohli-Seth, Roopa

    Published 2022
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  3. 3
    14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

    14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype by Ellaway, Carolyn J, Ho, Gladys, Bettella, Elisa, Knapman, Alisa, Collins, Felicity, Hackett, Anna, McKenzie, Fiona, Darmanian, Artur, Peters, Gregory B, Fagan, Kerry, Christodoulou, John

    Published 2013
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  4. 4
    A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

    A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability by Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef

    Published 2016
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  5. 5
    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation by Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

    Published 2010
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  6. 6
    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

    Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation by Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef

    Published 2012
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  7. 7
    Novel Multidisciplinary Vascular Access Team Helps to Improve ICU Workflow Amidst Covid-19 Pandemic

    Novel Multidisciplinary Vascular Access Team Helps to Improve ICU Workflow Amidst Covid-19 Pandemic by Hackett, Anna K., Wells, Celia M., Gupta, Rohit, Zhang, Ziya, Brito, Amy, Kirton, Natalie B., Chan, Christy C., Brown, Kester, Wong, Caitlin, Leonardi, Kayla M., Shittu, Atinuke, Lay, Cappi, Kohli-Seth, Roopa

    Published 2022
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  8. 8
    A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

    A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation by Khayat, Wujood, Hackett, Anna, Shaw, Marie, Ilie, Alina, Dudding-Byth, Tracy, Kalscheuer, Vera M, Christie, Louise, Corbett, Mark A, Juusola, Jane, Friend, Kathryn L, Kirmse, Brian M, Gecz, Jozef, Field, Michael, Orlowski, John

    Published 2019
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  9. 9
    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disa... by Dudding-Byth, Tracy, Baxter, Anne, Holliday, Elizabeth G., Hackett, Anna, O’Donnell, Sheridan, White, Susan M., Attia, John, Brunner, Han, de Vries, Bert, Koolen, David, Kleefstra, Tjitske, Ratwatte, Seshika, Riveros, Carlos, Brain, Steve, Lovell, Brian C.

    Published 2017
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  10. 10
    Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

    Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders by Srivastava, Siddharth, Niranjan, Tejasvi, May, Melanie M., Tarpey, Patrick, Allen, William, Hackett, Anna, Jouk, Pierre‐Simon, Raymond, Lucy, Briault, Slyvain, Skinner, Cindy, Toutain, Annick, Gecz, Jozef, Heath, William, Stevenson, Roger E., Schwartz, Charles E., Wang, Tao

    Published 2019
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  11. 11
    De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

    De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability by Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy

    Published 2014
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  12. 12
    A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

    A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C by Jensen, Lars R, Bartenschlager, Heinz, Rujirabanjerd, Sinitdhorn, Tzschach, Andreas, Nümann, Astrid, Janecke, Andreas R, Spörle, Ralf, Stricker, Sigmar, Raynaud, Martine, Nelson, John, Hackett, Anna, Fryns, Jean-Pierre, Chelly, Jamel, de Brouwer, Arjan PM, Hamel, Ben, Gecz, Jozef, Ropers, Hans-Hilger, Kuss, Andreas W

    Published 2010
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  13. 13
    A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

    A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability by Huang, Lingli, Jolly, Lachlan A., Willis-Owen, Saffron, Gardner, Alison, Kumar, Raman, Douglas, Evelyn, Shoubridge, Cheryl, Wieczorek, Dagmar, Tzschach, Andreas, Cohen, Monika, Hackett, Anna, Field, Michael, Froyen, Guy, Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Kalscheuer, Vera M., Corbett, Mark A., Gecz, Jozef

    Published 2012
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  14. 14
    Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

    Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis by Ramos-Brossier, Mariana, Montani, Caterina, Lebrun, Nicolas, Gritti, Laura, Martin, Christelle, Seminatore-Nole, Christine, Toussaint, Aurelie, Moreno, Sarah, Poirier, Karine, Dorseuil, Olivier, Chelly, Jamel, Hackett, Anna, Gecz, Jozef, Bieth, Eric, Faudet, Anne, Heron, Delphine, Kooy, Frank, Loeys, Bart, Humeau, Yann, Sala, Carlo, Billuart, Pierre

    Published 2015
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  15. 15
    CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

    CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes by Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E, Tolmie, John, Yates, John RW, Turner, Gillian, Wilson, Meredith, Futreal, Andrew P, Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F Lucy, Stratton, Michael R, Schwartz, Charles E, Abidi, Fatima E

    Published 2010
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  16. 16
    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability by Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy

    Published 2015
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  17. 17
    Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

    Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes by Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E, Tolmie, John, Yates, John R W, Turner, Gillian, Wilson, Meredith, Futreal, Andrew P, Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F Lucy, Stratton, Michael R, Schwartz, Charles E, Abidi, Fatima E

    Published 2010
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  18. 18
    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability by Shoubridge, Cheryl, Tarpey, Patrick S, Abidi, Fatima, Ramsden, Sarah L, Rujirabanjerd, Sinitdhorn, Murphy, Jessica A, Boyle, Jackie, Shaw, Marie, Gardner, Alison, Proos, Anne, Puusepp, Helen, Raymond, F Lucy, Schwartz, Charles E, Stevenson, Roger E, Turner, Gill, Field, Michael, Walikonis, Randall S, Harvey, Robert J, Hackett, Anna, Futreal, P Andrew, Stratton, Michael R, Gécz, Jozef

    Published 2010
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  19. 19
    Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

    Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 by Jensen, Lars R, Chen, Wei, Moser, Bettina, Lipkowitz, Bettina, Schroeder, Christopher, Musante, Luciana, Tzschach, Andreas, Kalscheuer, Vera M, Meloni, Ilaria, Raynaud, Martine, van Esch, Hilde, Chelly, Jamel, de Brouwer, Arjan P M, Hackett, Anna, van der Haar, Sigrun, Henn, Wolfram, Gecz, Jozef, Riess, Olaf, Bonin, Michael, Reinhardt, Richard, Ropers, Hans-Hilger, Kuss, Andreas W

    Published 2011
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  20. 20
    Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

    Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability by Whibley, Annabel C., Plagnol, Vincent, Tarpey, Patrick S., Abidi, Fatima, Fullston, Tod, Choma, Maja K., Boucher, Catherine A., Shepherd, Lorraine, Willatt, Lionel, Parkin, Georgina, Smith, Raffaella, Futreal, P. Andrew, Shaw, Marie, Boyle, Jackie, Licata, Andrea, Skinner, Cindy, Stevenson, Roger E., Turner, Gillian, Field, Michael, Hackett, Anna, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Raymond, F. Lucy

    Published 2010
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