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Research Outputs

  1. 2017
  2. Integrative genomics of microglia implicates DLG4 (PSD95) in the white matter development of preterm infants

    Krishnan, M. L., Van Steenwinckel, J., Schang, A., Yan, J., Arnadottir, J., Le Charpentier, T., Csaba, Z., Dournaud, P., Cipriani, S., Auvynet, C., Titomanlio, L., Pansiot, J., Ball, G., Boardman, J. P., Walley, A. J., Saxena, A., Mirza, G., Fleiss, B., Edwards, A. D., Petretto, E. & 1 others, Gressens, P., 1 Dec 2017, In : Nature Communications. 8, 1

    Research output: Contribution to journalArticle

  3. Feasibility and acceptability of a patient-reported outcome intervention in chronic heart failure

    Kane, P. M., Daveson, B. A., Ryan, K., Ellis-Smith, C. I., Mahon, N. G., McAdam, B., McQuilllan, R., Tracey, C., Howley, C., O'Gara, G., Raleigh, C., Higginson, I. J., Koffman, J., Murtagh, F. E. M. & BuildCARE, Dec 2017, In : BMJ Supportive and Palliative Care.

    Research output: Contribution to journalArticle

  4. Fragilité cutanée et kératodermie palmoplantaire : pensez (aussi) au PLACK Syndrome: Journées Dermatologiques de Paris 2017

    Alkhalifah, A., Chiaverini, C., Del Giudice, P., Supsrisunjai, C., Hsu, C. K., Liu, L., Charlesworth, A., McGrath, J. A. & Lacour, J. P., Dec 2017, In : Annales De Dermatologie et De Venereologie. 144, 12, Supplement, p. S79-S80

    Research output: Contribution to journalMeeting abstract

  5. Social and clinical determinants of preferences and their achievement at the end of life: prospective cohort study of older adults receiving palliative care in three countries

    Higginson, I. J., Daveson, B. A., Morrison, R. S., Yi, D., Meier, D., Smith, M., Ryan, K., McQuillan, R., Johnston, B. M., Normand, C. & BuildCARE, 23 Nov 2017, In : BMC Geriatrics . 17, 1, p. 271

    Research output: Contribution to journalArticle

  6. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

    Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Mahmoudi, H., Touati, A., Abiri, M., Kajbafzadeh, A. M., Aristodemou, S., Liu, L., McGrath, J. A., Ertel, A., Londin, E., Kariminejad, A., Zeinali, S., Fortina, P. & Uitto, J., 11 Nov 2017, In : Matrix Biology.

    Research output: Contribution to journalArticle

  7. Caveolin-1 controls hyperresponsiveness to mechanical stimuli and fibrogenesis-associated RUNX2 activation in keloid fibroblasts

    Hsu, C-K., Lin, H-H., Harn, H. I-C., Ogawa, R., Wang, Y-K., Ho, Y-T., Chen, W-R., Lee, Y-C., Lee, J. Y-Y., Shieh, S-J., Cheng, C-M., McGrath, J. A. & Tang, M-J., 9 Sep 2017, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  8. 227 Patient pre-selection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa: ESDR 2017 Annual Meeting47th Annual ESDR Meeting

    Lwin, S. M., Gaucher, S., Titeux, M., Abdul-Wahab, A., Pironon, N., Miskinyte, S., GANIER, C., Duchatelet, S., McGrath, J. & Hovnanian, A., 8 Sep 2017, In : Journal of Investigative Dermatology. 137, 10, Supplement 2, p. S231

    Research output: Contribution to journalArticle

  9. 261 Tissue and circulating microRNA co-expression analysis reveals potential involvement of miRNAs in the pathobiology of frontal fibrosing alopecia: ESDR 2017 Annual Meeting47th Annual ESDR Meeting

    Tziotzios, C., Ainali, C., Onoufriadis, A., Cunningham, F., Palamaras, I., Stefanato, C. M., Kirkpatrick, N., Vano-Galvan, S., Fenton, D. A. & McGrath, J., 8 Sep 2017, In : Journal of Investigative Dermatology. 137, 10, Supplement 2, p. S237

    Research output: Contribution to journalMeeting abstract

  10. Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45

    Straussberg, R., Onoufriadis, A., Konen, O., Zouabi, Y., Cohen, L., Lee, J. Y. W., Hsu, C-K., Simpson, M. A. & McGrath, J. A., 8 Sep 2017, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journalArticle

  11. Palliative care and management of troublesome symptoms for people with chronic obstructive pulmonary disease

    Maddocks, M., Lovell, N., Booth, S., Man, W. D. C. & Higginson, I. J., 2 Sep 2017, In : Lancet. 390, 10098, p. 988-1002 15 p.

    Research output: Contribution to journalReview article

  12. Amelexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: Potential for recessive dystrophic epidermolysis bullosa

    Atanasova, V., Jiang, Q., Prisco, M., Gruber, C., Piñón Hofbauer, J., Chen, M., Has, C., Leena, B-T., McGrath, J. A., Uitto, J. & South, A. P., 1 Sep 2017, In : Journal of Investigative Dermatology. 137, 9, p. 1842-1849

    Research output: Contribution to journalArticle

  13. Editorial

    Higginson, I. J., Sep 2017, In : Palliative Medicine. 31, 8, p. 681-683 3 p.

    Research output: Contribution to journalArticle

  14. The TEAM Approach to Improving Oncology Outcomes by Incorporating Palliative Care in Practice

    Bakitas, M. A., El-Jawahri, A., Farquhar, M., Ferrell, B., Grudzen, C., Higginson, I., Temel, J. S. & Zimmermann, C., Sep 2017, In : Journal of oncology practice / American Society of Clinical Oncology. 13, 9, p. 557-566 10 p.

    Research output: Contribution to journalArticle

  15. Reactive astrocyte COX2-PGE2 production inhibits oligodendrocyte maturation in neonatal white matter injury

    Shiow, L. R., Favrais, G., Schirmer, L., Schang, A-L., Cipriani, S., Andres, C., Wright, J. N., Nobuta, H., Fleiss, B., Gressens, P. & Rowitch, D. H., 30 Aug 2017, In : Glia.

    Research output: Contribution to journalArticle

  16. Valuing attributes of home palliative care with service users: a pilot discrete choice experiment

    Gomes, B., de Brito, M., Sarmento, V. P., Yi, D., Soares, D., Fernandes, J., Fonseca, B., Gonçalves, E., Ferreira, P. L. & Higginson, I. J., 8 Aug 2017, In : Journal of pain and symptom management.

    Research output: Contribution to journalArticle

  17. Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia

    Takeichi, T., Torrelo, A., Lee, J. Y. W., Ohno, Y., Lozano, M. L., Kihara, A., Liu, L., Yasuda, Y., Ishikawa, J., Murase, T., Rodrigo, A. B., Fernández-Crehuet, P., Toi, Y., Mellerio, J., Rivera, J., Vicente, V., Kelsell, D. P., Nishimura, Y., Okuno, Y., Kojima, D. & 6 others, Ogawa, Y., Sugiura, K., Simpson, M. A., McLean, W. H. I., Akiyama, M. & McGrath, J. A., 31 Jul 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2344-2353

    Research output: Contribution to journalArticle

  18. Tissue and circulating microRNA co-expression analysis reveals potential involvement of miRNAs in the pathobiology of frontal fibrosing alopecia

    Tziotzios, C., Ainali, C., Holmes, S., Cunningham, F., Lwin, S. M., Palamaras, I., Bhargava, K., Rymer, J., Stefanato, C., Kirkpatrick, N., Vano-Galvan, S., Petridis, C., Fenton, D. A., Simpson, M. A., Onoufriadis, A. & McGrath, J. A., 31 Jul 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2440-2443

    Research output: Contribution to journalLetter

  19. Persistently Altered Metabolic Phenotype following Perinatal Excitotoxic Brain Injury

    Blaise, B. J., Schwendimann, L., Chhor, V., Degos, V., Hodson, M. P., Dallmann, G., Keller, M., Gressens, P. & Fleiss, B., Jul 2017, In : Developmental Neuroscience. 39, p. 182-191 10 p.

    Research output: Contribution to journalArticle

  20. Autoinflammatory keratinization diseases

    Akiyama, M., Takeichi, T., McGrath, J. A. & Sugiura, K., 28 Jun 2017, In : Journal of Allergy and Clinical Immunology. 3 p.

    Research output: Contribution to journalArticle

  21. Cognitive-emotional interventions for breathlessness in adults with advanced diseases

    Bolzani, A., Rolser, S. M., Kalies, H., Maddocks, M., Rehfuess, E., Hutchinson, A., Gysels, M., Higginson, I. J., Booth, S. & Bausewein, C., 21 Jun 2017, In : The Cochrane database of systematic reviews. 2017, 6, CD012682.

    Research output: Contribution to journalArticle

  22. Physical interventions for breathlessness in adults with advanced diseases

    Bolzani, A., Rolser, S. M., Kalies, H., Maddocks, M., Rehfuess, E., Gysels, M., Higginson, I. J., Booth, S. & Bausewein, C., 21 Jun 2017, In : The Cochrane database of systematic reviews. 2017, 6, p. 1-13 13 p., CD012684.

    Research output: Contribution to journalArticle

  23. Respiratory interventions for breathlessness in adults with advanced diseases

    Bolzani, A., Rolser, S. M., Kalies, H., Maddocks, M., Rehfuess, E., Swan, F., Gysels, M., Higginson, I. J., Booth, S. & Bausewein, C., 21 Jun 2017, In : The Cochrane database of systematic reviews. 2017, 6, CD012683.

    Research output: Contribution to journalArticle

  24. About the "surprise question"

    Costantini, M., Higginson, I. J., Merlo, D. F., Di Leo, S. & Tanzi, S., 12 Jun 2017, In : CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne. 189, 23, p. E807

    Research output: Contribution to journalArticle

  25. PLACK syndrome resulting from a new homozygous insertion mutation in CAST

    Alkhalifah, A., Chiaverini, C., Del Giudice, P., Supsrisunjai, C., Hsu, C-K., Liu, L., Charlesworth, A., McGrath, J. A. & Lacour, J-P., 9 Jun 2017, In : Journal of Dermatological Science.

    Research output: Contribution to journalArticle

  26. Dual requirements for WNT10A in proliferation and KLF4-mediated differentiation underlie ectodermal dysplasia

    Zu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., Levin, B., Mansfield, C., Douglas, J. E., Cowart, B. J., Tordoff, M., Liu, F., Zhu, X., Barlow, L. A. & 5 others, Rubin, A. I., McGrath, J. A., Morrisey, E. E., Chu, E. Y. & Millar, S. E., 7 Jun 2017, In : Nature Communications. 8

    Research output: Contribution to journalArticle

  27. A new clinical diagnostic matrix for epidermolysis bullosa

    McGrath, J. A., 5 Jun 2017, In : British Journal of Dermatology. 176, 6, p. 1442–1443 2 p.

    Research output: Contribution to journalArticle

  28. Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies"

    Passemard, S., Perez, F., Colin-Lemesre, E., Rasika, S., Gressens, P. & El Ghouzzi, V., Jun 2017, In : Progress in Neurobiology. 153, p. 46-63 18 p.

    Research output: Contribution to journalArticle

  29. Randomised clinical trial of early specialist palliative care plus standard care versus standard care alone in patients with advanced cancer: The Danish Palliative Care Trial

    Groenvold, M., Petersen, M. A., Damkier, A., Neergaard, M. A., Nielsen, J. B., Pedersen, L., Sjøgren, P., Strömgren, A. S., Vejlgaard, T. B., Gluud, C., Lindschou, J., Fayers, P., Higginson, I. J. & Johnsen, A. T., 12 May 2017, In : Palliative Medicine.

    Research output: Contribution to journalArticle

  30. Long-Term Neuropathological Changes Associated with Cerebral Palsy in a Nonhuman Primate Model of Hypoxic-Ischemic Encephalopathy

    McAdams, R. M., Fleiss, B., Traudt, C., Schwendimann, L., Snyder, J. M., Haynes, R. L., Natarajan, N., Gressens, P. & Juul, S. E., 10 May 2017, In : Developmental Neuroscience. 39, 1-4, p. 124-140

    Research output: Contribution to journalArticle

  31. Strategies to address the shortcomings of commonly used advanced chronic heart failure descriptors to improve recruitment in palliative care research: A parallel mixed-methods feasibility study

    Kane, P. M., Murtagh, F. EM., Ryan, K. R., Brice, M., Mahon, N. G., McAdam, B., McQuillan, R., O’Gara, G., Raleigh, C., Tracey, C., Howley, C., Higginson, I. J. & Daveson, B. A., 10 May 2017, In : Palliative Medicine. p. 0269216317706426

    Research output: Contribution to journalArticle

  32. Structure and function of skin, hair and nails

    Lai-Cheong, J. E. & McGrath, J. A., 5 May 2017, In : Medicine.

    Research output: Contribution to journalArticle

  33. Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

    Hsu, C. K., Romano, M. T., Nanda, A., Rashidghamat, E., Lee, J. Y. W., Huang, H. Y., Songsantiphap, C., Lee, J. Y. Y., Al-Ajmi, H., Betz, R. C., Simpson, M. A., McGrath, J. A. & Tziotzios, C., 1 May 2017, In : Journal of Investigative Dermatology. 137, 5, p. 1176-1179 4 p.

    Research output: Contribution to journalArticle

  34. 515 Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex: SID 2017 Annual Meeting Abstract SupplementSociety for Investigative Dermatology Annual Meeting

    Lee, J. Y. W., Liu, L., Hsu, C., Aristodemou, S., Ozoemena, L., Ogboli, M., Moss, C., Martinez, A. E., Mellerio, J. E. & McGrath, J., May 2017, In : Journal of Investigative Dermatology. 137, 5, Supplement 1, p. S88

    Research output: Contribution to journalMeeting abstract

  35. Dexmedetomidine Combined with Therapeutic Hypothermia Is Associated with Cardiovascular Instability and Neurotoxicity in a Piglet Model of Perinatal Asphyxia

    Ezzati, M., Kawano, G., Rocha-Ferreira, E., Alonso-Alconada, D., Hassell, J. K., Broad, K. D., Fierens, I., Fleiss, B., Bainbridge, A., Price, D. L., Kaynezhad, P., Anderson, B., Hristova, M., Tachtsidis, I., Golay, X., Gressens, P., Sanders, R. D. & Robertson, N. J., 8 Apr 2017, In : Developmental Neuroscience.

    Research output: Contribution to journalArticle

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