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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. 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

  4. Optimized Amplitude Modulated Multiband RF Pulse Design

    Abo Seada, S., Price, A. N., Hajnal, J. V. & Malik, S. J., Dec 2017, In : Magnetic Resonance in Medicine. 78, 6, p. 2185-2193

    Research output: Contribution to journalArticle

  5. 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

  6. Impaired development of the cerebral cortex in infants with congenital heart disease is correlated to reduced cerebral oxygen delivery

    Kelly, C. J., Makropoulos, A., Cordero-Grande, L., Hutter, J., Price, A., Hughes, E., Murgasova, M., Teixeira, R. P. A. G., Steinweg, J. K., Kulkarni, S., Rahman, L., Zhang, H., Alexander, D. C., Pushparajah, K., Rueckert, D., Hajnal, J. V., Simpson, J., Edwards, A. D., Rutherford, M. A. & Counsell, S. J., 8 Nov 2017, In : Scientific Reports. 7, 1, p. 15088

    Research output: Contribution to journalArticle

  7. Punctate White Matter Lesions Associated With Altered Brain Development And Adverse Motor Outcome In Preterm Infants

    Tusor, N., Benders, M. J., Counsell, S. J., Nongena, P., Ederies, M. A., Falconer, S., Chew, A., Gonzalez-Cinca, N., Hajnal, J. V., Gangadharan, S., Chatzi, V., Kersbergen, K. J., Kennea, N., Azzopardi, D. V. & Edwards, A. D., 16 Oct 2017, In : Scientific Reports. 7, 1, p. 13250 13250.

    Research output: Contribution to journalArticle

  8. Dynamic field mapping and motion correction using interleaved double spin-echo diffusion MRI

    Hutter, J., Christiaens, D., Kuklisova-Murgasova, M., Cordero-Grande, L., Slator, P., Price, A., Rutherford, M. & Hajnal, J. V., 1 Oct 2017, Lecture Notes in Computer Science - MICCAI 2017. Vol. 10433 LNCS. p. 523-531 8 p.

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

  9. 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

  10. Context-sensitive super-resolution for fast fetal magnetic resonance imaging

    McDonagh, S., Hou, B., Alansary, A., Oktay, O., Kamnitsas, K., Rutherford, M., Hajnal, J. & Kainz, B., 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. 116-126 11 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

  11. 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

  12. 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

  13. 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

  14. Predicting slice-to-volume transformation in presence of arbitrary subject motion

    Hou, B., Alansary, A., McDonagh, S., Davidson, A., Rutherford, M., Hajnal, J. V., Rueckert, D., Glocker, B. & Kainz, B., 4 Sep 2017, Medical Image Computing and Computer Assisted Intervention − MICCAI 2017 - 20th International Conference, Proceedings. Springer Verlag, Vol. 10434 LNCS. p. 296-304 9 p. (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); vol. 10434 LNCS).

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

  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. PVR: Patch-to-Volume Reconstruction for Large Area Motion Correction of Fetal MRI

    Alansary, A., Rajchl, M., McDonagh, S. G., Murgasova, M., Damodaram, M., Lloyd, D. F. A., Davidson, A., Rutherford, M., Hajnal, J. V., Rueckert, D. & Kainz, B., 1 Sep 2017, In : IEEE Transactions on Medical Imaging.

    Research output: Contribution to journalArticle

  17. Quantifying Placental Microcirculation and Microstructure with Anisotropic IVIM Models

    Slator, P. J., Hutter, J., McCabe, L., Santos Gomes, A. D., Price, A. N., Panagiotaki, E., Rutherford, M. A., Hajnal, J. V. & Alexander, D. C., Sep 2017, In : Placenta. 57, p. 290-291 2 p.

    Research output: Contribution to journalArticle

  18. 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

  19. A tract-specific approach to assessing white matter in preterm infants

    Pecheva, D., Yushkevich, P., Batalle, D., Hughes, E., Aljabar, P., Wurie, J., Hajnal, J. V., Edwards, A. D., Alexander, D. C., Counsell, S. J. & Zhang, H., 15 Aug 2017, In : NeuroImage. 157, p. 675-694 20 p.

    Research output: Contribution to journalArticle

  20. 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

  21. 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

  22. Normative biometry of the fetal brain using magnetic resonance imaging

    Kyriakopoulou, V., Vatansever, D., Davidson, A., Patkee, P., Elkommos, S., Chew, T. M., Martinez-Biarge, M., Hagberg, B., Mellisa, D., Allsop, J. M., Fox, M., Hajnal, J. V. & Rutherford, M. A., Jul 2017, In : Brain structure & function. 222, 5, p. 2295 - 2307

    Research output: Contribution to journalArticle

  23. 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

  24. 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

  25. A deformable model for the reconstruction of the neonatal cortex

    Schuh, A., Makropoulos, A., Wright, R., Robinson, E. C., Tusor, N., Steinweg, J., Hughes, E., Cordero Grande, L., Price, A., Hutter, J., Hajnal, J. V. & Rueckert, D., 19 Jun 2017, 2017 IEEE 14th International Symposium on Biomedical Imaging, ISBI 2017. IEEE Computer Society, p. 800-803 4 p.

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

  26. 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

  27. 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

  28. 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

  29. 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

  30. Time-efficient and flexible design of optimised multi-shell HARDI diffusion

    Hutter, J., Tournier, J. D., Price, A. N., Cordero-Grande, L., Hughes, E. J., Malik, S., Steinweg, J., Bastiani, M., Sotiropoulos, S. N., Jbabdi, S., Andersson, J., Edwards, A. D. & Hajnal, J. V., 30 May 2017, In : Magnetic Resonance in Medicine.

    Research output: Contribution to journalArticle

  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. 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. A simple optimisation approach to making time efficient VERSE-multiband pulses feasible on non-ideal gradients

    Abo Seada, S., Hajnal, J. V. & Malik, S. J., 20 Apr 2017, A simple optimisation approach to making time efficient VERSE-multiband pulses feasible on non-ideal gradients. 5059

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

  36. Root-flipped multiband pulses with inherently aligned echoes

    Abo Seada, S., Hajnal, J. V. & Malik, S. J., 20 Apr 2017, Root-flipped multiband pulses with inherently aligned echoes. 3955

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

  37. 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

  38. Early development of structural networks and the impact of prematurity on brain connectivity

    Batalle, D., Hughes, E. J., Zhang, H., Tournier, J. D., Tusor, N., Aljabar, P., Wali, L., Alexander, D. C., Hajnal, J. V., Nosarti, C., Edwards, A. D. & Counsell, S. J., 1 Apr 2017, In : NeuroImage. 149, p. 379-392 14 p.

    Research output: Contribution to journalArticle

  39. 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

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