Skip to content

Search Bristol research

1 - 10 out of 24Page size: 10
  1. 2019
  2. Published

    Severity Assessment in CDKL5 Deficiency Disorder

    Demarest, S., Pestana-Knight, E. M., Olson, H. E., Downs, J., Marsh, E. D., Kaufmann, W. E., Partridge, C. A., Leonard, H., Gwadry-Sridhar, F., Frame, K. E., Cross, J. H., Chin, R. F. M., Parikh, S., Panzer, A., Weisenberg, J., Utley, K., Jaksha, A., Amin, S., Khwaja, O., Devinsky, O., Neul, J. L., Percy, A. K. & Benke, T. A., 1 Aug 2019, In : Pediatric Neurology. 97, p. 38-42 5 p.

    Research output: Contribution to journalArticle

  3. Published

    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): A cohort study

    Prenatal Assessment of Genomes and Exomes Consortium, 1 Jul 2019, In : Obstetrical and Gynecological Survey. 74, 7, p. 394-396 3 p.

    Research output: Contribution to journalComment/debate

  4. Published

    Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome

    The DDD study, 1 Jun 2019, In : Clinical Genetics. 95, 6, p. 693-703 11 p.

    Research output: Contribution to journalArticle

  5. Published

    Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

    Van Esch, H., Colnaghi, R., Freson, K., Starokadomskyy, P., Zankl, A., Backx, L., Abramowicz, I., Outwin, E., Rohena, L., Faulkner, C., Leong, G. M., Newbury-Ecob, R. A., Challis, R. C., Õunap, K., Jaeken, J., Seuntjens, E., Devriendt, K., Burstein, E., Low, K. J. & O'Driscoll, M., 2 May 2019, In : American Journal of Human Genetics. 104, 5, p. 957-967 11 p.

    Research output: Contribution to journalArticle

  6. Published

    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

    The Deciphering Developmental Disorders Study, 4 Apr 2019, In : American Journal of Human Genetics. 104, 4, p. 709-720 12 p.

    Research output: Contribution to journalArticle

  7. Published

    KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

    The DDD Study, 1 Apr 2019, In : Genetics in Medicine. 21, 4, p. 850-860 11 p.

    Research output: Contribution to journalArticle

  8. Published

    New macular findings in individuals with biallelic KLHL7 gene mutation

    Heng, L. Z., Kennedy, J., Smithson, S., Newbury-Ecob, R. & Churchill, A., 16 Feb 2019, In : BMJ Open Ophthalmology. 4, 1, 4 p., e000234.

    Research output: Contribution to journalArticle

  9. Published

    Neutropenia in Barth syndrome: characteristics, risks, and management

    Steward, C. G., Groves, S. J., Taylor, C. T., Maisenbacher, M. K., Versluys, B., Newbury-Ecob, R. A., Ozsahin, H., Damin, M. K., Bowen, V. M., McCurdy, K. R., Mackey, M. C., Bolyard, A. A. & Dale, D. C., Jan 2019, In : Current Opinion in Hematology. 26, 1, p. 6-15 10 p.

    Research output: Contribution to journalArticle

  10. 2018
  11. Published

    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    Snijders Blok, L., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A., Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Koopmans, M., Brilstra, E. H., Monroe, G. R., van Gassen, K. L. I., van Binsbergen, E., Newbury-Ecob, R., Bownass, L., Bader, I., Mayr, J. A., Wortmann, S. B., Jakielski, K. J., Strand, E. A., Kloth, K., Bierhals, T., Roberts, J. D., Petrovich, R. M., Machida, S., Kurumizaka, H., Lelieveld, S., Pfundt, R., Jansen, S., Deriziotis, P., Faive, L., Thevenon, J., Assoum, M., Shriberg, L., Kleefstra, T., Brunner, H. G., Wade, P. A., Fisher, S. E. & Campeau, P. M., 5 Nov 2018, In : Nature Communications. 9, 12 p., 4619.

    Research output: Contribution to journalArticle

  12. Published

    Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

    Gray, B., Hasdemir, C., Ingles, J., Aiba, T., Makita, N., Probst, V., Wilde, A. A. M., Newbury-Ecob, R., Sheppard, M. N., Semsarian, C., Sy, R. W. & Behr, E. R., 1 Jul 2018, In : Heart Rhythm. 15, 7, p. 1051-1057 7 p.

    Research output: Contribution to journalArticle

Previous 1 2 3 Next