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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. Three-dimensional printed models for surgical planning of complex congenital heart defects: An international multicentre study

    Valverde, I., Gomez-Ciriza, G., Hussain, T., Suarez-Mejias, C., Velasco-Forte, M. N., Byrne, N., Ordoñez, A., Gonzalez-Calle, A., Anderson, D., Hazekamp, M. G., Roest, A. A. W., Rivas-Gonzalez, J., Uribe, S., El-Rassi, I., Simpson, J., Miller, O., Ruiz, E., Zabala, I., Mendez, A., Manso, B. & 11 others, Gallego, P., Prada, F., Cantinotti, M., Ait-Ali, L., Merino, C., Parry, A., Poirier, N., Greil, G., Razavi, R., Gomez-Cia, T. & Hosseinpour, A. R., 1 Dec 2017, In : European Journal of Cardio-thoracic Surgery. 52, 6, p. 1139-1148 10 p.

    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. Pulmonary Artery Pressures in School-Age Children Born Prematurely

    Zivanovic, S., Pushparajah, K., Calvert, S., Marlow, N., Razavi, R., Peacock, J. L. & Greenough, A., Dec 2017, In : Journal of Pediatrics. 191, p. 42–49.e3

    Research output: Contribution to journalArticle

  6. Contrast-enhanced magnetic resonance imaging for the detection of ruptured coronary plaques in patients with acute myocardial infarction

    Jansen, C. H. P., Perera, D., Wiethoff, A. J., Phinikaridou, A., Razavi, R., Rinaldi, A., Marber, M. S., Greil, G. F., Nagel, E., Maintz, D., Redwood, S., Botnar, R. M. & Makowski, M. R., 30 Nov 2017, In : PLoS ONE. 12, 11, p. e0188292

    Research output: Contribution to journalArticle

  7. Prognostic Value of Quantitative Stress Perfusion Cardiac Magnetic Resonance

    Sammut, E. C., Villa, A. D. M., Di Giovine, G., Dancy, L., Bosio, F., Gibbs, T., Jeyabraba, S., Schwenke, S., Williams, S. E., Marber, M., Alfakih, K., Ismail, T. F., Razavi, R. & Chiribiri, A., 15 Nov 2017, In : JACC Cardiovascular Imaging.

    Research output: Contribution to journalArticle

  8. 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

  9. 3D Printed Models in Patients with Coronary Artery Fistulae: Anatomical Assessment and Interventional Planning

    Velasco Forte, M. D. L. N., Byrne, N., Valverde Perez, I., Bell, A. J., Gomez-Ciriza, G., Krasemann, T., Horst, S., Simpson, J., Pushparajah, K., Razavi, R., Qureshi, S. & Hussain, T., 11 Oct 2017, In : Eurointervention.

    Research output: Contribution to journalArticle

  10. 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

  11. Semi-automatic cardiac and respiratory gated MRI for cardiac assessment during exercise

    Ruijsink, B., Puyol Anton, E., Usman, M., van Amerom, J., Duong, P., Velasco Forte, M., Pushparajah, K., Frigiola, A., Nordsletten, D., King, A. & Razavi, R., 9 Sep 2017, Molecular Imaging, Reconstruction and Analysis of Moving Body Organs, and Stroke Imaging and Treatment - 5th International Workshop, CMMI 2017 2nd International Workshop, RAMBO 2017 and 1st International Workshop, SWITCH 2017 Held in Conjunction with MICCAI 2017, Proceedings. Springer Verlag, Vol. 10555 LNCS. p. 86-95 10 p. (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); vol. 10555 LNCS).

    Research output: Chapter in Book/Report/Conference proceedingOther chapter contribution

  12. 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

  13. 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

  14. 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

  15. 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

  16. Noninvasive Personalization of a Cardiac Electrophysiology Model from Body Surface Potential Mapping

    Giffard-Roisin, S., Jackson, T., Fovargue, L., Lee, J., Delingette, H., Razavi, R., Ayache, N. & Sermesant, M., 1 Sep 2017, In : IEEE Transactions on Biomedical Engineering. 64, 9, p. 2206-2218 13 p., 7745951.

    Research output: Contribution to journalArticle

  17. 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

  18. 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

  19. 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

  20. Ventricular function and vascular dimensions after Norwood and hybrid palliation of hypoplastic left heart syndrome

    Latus, H., Nassar, M. S., Wong, J., Hachmann, P., Bellsham-Revell, H., Hussain, T., Apitz, C., Salih, C., Austin, C., Anderson, D., Yerebakan, C., Akintuerk, H., Bauer, J., Razavi, R., Schranz, D. & Greil, G., 28 Jul 2017, In : Heart.

    Research output: Contribution to journalArticle

  21. Erratum to: Influence of acquired obesity on coronary vessel wall late gadolinium enhancement in discordant monozygote twins

    Makowski, M. R., Jansen, C. H. P., Ebersberger, U., Schaeffter, T., Razavi, R., Mangino, M., Spector, T. D., Botnar, R. & Greil, G. F., 4 Jul 2017, In : European Radiology. p. 1 1 p.

    Research output: Contribution to journalArticle

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. ECG imaging of ventricular tachycardia: evaluation against simultaneous non-contact mapping and CMR-derived grey zone

    Schulze, W. H. W., Chen, Z., Relan, J., Potyagaylo, D., Krueger, M. W., Karim, R., Sohal, M., Shetty, A., Ma, Y., Ayache, N., Sermesant, M., Delingette, H., Bostock, J., Razavi, R., Rhode, K. S., Rinaldi, C. A. & Dössel, O., Jun 2017, In : Medical and Biological Engineering and Computing. 55, 6, p. 979–990

    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. Assessment of atrioventricular valve regurgitation using biomechanical cardiac modeling

    Chabiniok, R., Moireau, P., Kiesewetter, C., Hussain, M. T., Razavi, R. & Chapelle, D., 23 May 2017, Functional Imaging and Modelling of the Heart - 9th International Conference, FIMH 2017, Proceedings: (LCNS). Vol. 10263. p. 401-411 11 p. (Lecture Notes in Computer Science).

    Research output: Chapter in Book/Report/Conference proceedingConference paper

  30. Sparse bayesian non-linear regression for multiple onsets estimation in non-invasive cardiac electrophysiology

    Giffard-Roisin, S., Delingette, H., Jackson, T., Fovargue, L., Lee, J., Rinaldi, A., Ayache, N., Razavi, R. & Sermesant, M., 23 May 2017, Functional Imaging and Modelling of the Heart - 9th International Conference, FIMH 2017, Proceedings. Springer Verlag, Vol. 10263 LNCS. p. 230-238 9 p. (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); vol. 10263 LNCS).

    Research output: Chapter in Book/Report/Conference proceedingConference paper

  31. 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

  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. Comprehensive use of cardiac computed tomography to guide left ventricular lead placement in cardiac resynchronization therapy

    Behar, J. M., Rajani, R., Pourmorteza, A., Preston, R., Razeghi, O., Niederer, S., Adhya, S., Claridge, S., Jackson, T., Sieniewicz, B., Gould, J., Carr-White, G., Razavi, R., McVeigh, E. & Rinaldi, C. A., 4 May 2017, In : Heart Rhythm. 14, 9, p. 1364-1372 9 p.

    Research output: Contribution to journalArticle

  34. 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

  35. 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

  36. 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

  37. Surgery increases cell death and induces changes in gene expression compared with anesthesia alone in the developing piglet brain

    Broad, K. D., Kawano, G., Fierens, I., Rocha-Ferreira, E., Hristova, M., Ezzati, M., Rostami, J., Alonso-Alconada, D., Chaban, B., Hassell, J., Fleiss, B., Gressens, P., Sanders, R. D. & Robertson, N. J., 29 Mar 2017, In : PLoS ONE. 12, 3, 15 p., e0173413.

    Research output: Contribution to journalArticle

  38. Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

    Dinani, N., Ali, M., Liu, L., McGrath, J. & Mellerio, J., 16 Mar 2017, In : Clinical and Experimental Dermatology. 42, 3, p. 316-319 4 p.

    Research output: Contribution to journalArticle

  39. Personalised biophysical model to optimize left ventricle pacing location for Cardiac Resynchronisation Therapy over time

    Lee, A., Sohal, M., Behar, J., Claridge, S., Shetty, A., Jackson, T., Hyde, E., Plank, G., Razavi, R., Lamata, P., Rinaldi, C. A. & Niederer, S., 1 Mar 2017, Computing in Cardiology. IEEE Computer Society Press, Vol. 43. p. 757-759 3 p. 7868853

    Research output: Chapter in Book/Report/Conference proceedingConference paper

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