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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. 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

  5. Protocol for measurement of mean arterial pressure at 10-40 weeks’ gestation

    Roberts, L., Chaemsaithong, P., Sahota, D. S., Nicolaides, K. & Poon, L., Oct 2017, In : Pregnancy Hypertension. 10, p. 155-160

    Research output: Contribution to journalArticle

  6. An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy

    Dixon, P. H., Sambrotta, M., Chambers, J., Taylor-Harris, P., Syngelaki, A., Nicolaides, K., Knisely, A. S., Thompson, R. J. & Williamson, C., 18 Sep 2017, In : Scientific Reports. 7, 1, 8 p., 11823.

    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. ASPRE trial: influence of compliance on beneficial effect of aspirin in prevention of preterm preeclampsia

    Wright, D., Poon, L. C., Rolnik, D. L., Syngelaki, A., Delgado, J. L., Vojtassakova, D., de Alvarado, M., Kapeti, E., Rehal, A., Pazos, A., Carbone, I. F., Dutemeyer, V., Plasencia, W., Papantoniou, N. & Nicolaides, K. H., 6 Sep 2017, In : American Journal of Obstetrics and Gynecology.

    Research output: Contribution to journalArticle

  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. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. Gestational disruptions in metabolic rhythmicity of the liver, muscle, and placenta affect fetal size

    Papacleovoulou, G., Nikolova, V., Oduwole, O., Chambers, J., Vazquez-Lopez, M., Jansen, E., Nicolaides, K., Parker, M. & Williamson, C., Apr 2017, In : Faseb Journal. 31, 4, p. 1698-1708 11 p.

    Research output: Contribution to journalArticle

  28. 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

  29. 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

  30. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

    Lee, J. Y. W., Hsu, C. K., Michael, M., Nanda, A., Liu, L., McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E., Hayday, T., Blumen, S. C., Abu-Mouch, S., Straussberg, R., Basel-Vanagaite, L., Barhum, Y., Zouabi, Y., Al-Ajmi, H., Huang, H. Y., Lin, T. C. & 6 others, Akiyama, M., Lee, J. Y. Y., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 2 Feb 2017, 2 ed. The American Journal of Human Genetics. 364 p.

    Research output: Book/ReportReport

  31. ATR gene mutations in HPV negative oropharyngeal cancer

    Jeannon, J. P., Tanaka, A., Thavaraj, S., Guerrero-Urbano, T., McGrath, J. A. & Tavassoli, M., 1 Feb 2017, In : ORAL ONCOLOGY. 65, p. 121-123 3 p.

    Research output: Contribution to journalLetter

  32. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7

    Takeichi, T., Nomura, T., Takama, H., Kono, M., Sugiura, K., Watanabe, D., Shimizu, H., Simpson, M. A., McGrath, J. A. & Akiyama, M., 23 Jan 2017, In : British Journal of Dermatology.

    Research output: Contribution to journalLetter

  33. Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex

    Lee, J. Y. W., Liu, L., Hsu, C-K., Aristodemou, S., Ozoemena, L., Ogboli, M., Moss, C., Martinez, A. E., Mellerio, J. E. & McGrath, J. A., 19 Jan 2017, In : Journal of Investigative Dermatology. 137, 6, p. 1378-1380

    Research output: Contribution to journalLetter

  34. Axl Mediates ZIKA Virus Entry in Human Glial Cells and Modulates Innate Immune Responses

    Meertens, L., Labeau, A., Dejarnac, O., Cipriani, S., Sinigaglia, L., Bonnet-Madin, L., Le Charpentier, T., Hafirassou, M. L., Zamborlini, A., Cao-Lormeau, V-M., Coulpier, M., Missé, D., Jouvenet, N., Tabibiazar, R., Gressens, P., Schwartz, O. & Amara, A., 10 Jan 2017, In : Cell Reports. 18, 2, p. 324-333 10 p.

    Research output: Contribution to journalArticle

  35. Questioning the Clinical Utility of Exome Sequencing in Developing Countries

    Fong, K., Bailey, C. V., Tuttle, P., Cunningham, B., McGrath, J. A. & Cho, R. J., 5 Jan 2017, In : Pediatric Dermatology. 34, 1, p. e32-e34

    Research output: Contribution to journalArticle

  36. Pityriasis rubra pilaris type v as an autoinflammatory disease by card14 mutations

    Takeichi, T., Sugiura, K., Nomura, T., Sakamoto, T., Ogawa, Y., Oiso, N., Futei, Y., Fujisaki, A., Koizumi, A., Aoyama, Y., Nakajima, K., Hatano, Y., Hayashi, K., Ishida-Yamamoto, A., Fujiwara, S., Sano, S., Iwatsuki, K., Kawada, A., Suga, Y., Shimizu, H. & 2 others, McGrath, J. & Akiyama, M., 1 Jan 2017, In : JAMA dermatology. 153, 1, p. 66-70 5 p.

    Research output: Contribution to journalArticle

  37. Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing

    Saito, R., Boyce, A., Hsu, C., Rashidghamat, E., Hide, M., Wedgeworth, E. K., Flohr, C., Mellerio, J. E. & Mcgrath, J. A., 1 Jan 2017, In : British Journal of Dermatology. 176, 1, p. 249-251

    Research output: Contribution to journalLetter

  38. 82: First-trimester metabolomic prediction of gestational diabetes (GDM): 37th Annual Meeting of the Society for Maternal Fetal MedicineThe Pregnancy Meeting37th Annual Meeting of the Society for Maternal Fetal Medicine

    Bahado-Singh, R. O., Syngelaki, A., Mandal, R., Han, B., Accurti, V., Li, L., Wang, N., Tseng, C-L., Chelliah, A., Turkoglu, O., Kaur, S., Wishart, D. S. & Nicolaides, K. H., Jan 2017, In : American Journal of Obstetrics and Gynecology. 216, 1, Supplement, p. S58

    Research output: Contribution to journalPoster abstract

  39. How to: Measuring blood cytokines in biological psychiatry using commercially available multiplex immunoassays

    Belzeaux, R., Lefebvre, M-N., Lazzari, A., Le Carpentier, T., Consoloni, J-L., Zendjidjian, X., Abbar, M., Courtet, P., Naudin, J., Boucraut, J., Gressens, P., Glaichenhaus, N. & Ibrahim, E. C., Jan 2017, In : Psychoneuroendocrinology. 75, p. 72-82 11 p.

    Research output: Contribution to journalArticle

  40. ASPRE trial: effect of aspirin in prevention of preterm preeclampsia in subgroups of women according to their characteristics and medical and obstetrical history

    Poon, L. C., Wright, D., Rolnik, D. L., Syngelaki, A., Delgado, J. L., Tsokaki, T., Leipold, G., Akolekar, R., Shearing, S., de Stefani, L., Jani, J. C., Plasencia, W., Evangelinakis, N., Gonzalez-Vanegas, O., Persico, N. & Nicolaides, K. H., 2017, In : American Journal of Obstetrics and Gynecology.

    Research output: Contribution to journalArticle

  41. ASPRE trial: performance of screening for preterm preeclampsia

    Rolnik, D., Wright, D., Poon, C. Y. L., Syngelaki, A., O'Gorman, N. M., De Paco, C., Akolekar, R., Cicero, S., Janga, D., Singh, M., Molina, F., Persico, N., Jani, J., Plasencia, W., Papaioannou, G. I., Tennebaum Gavish, K. & Nicolaides, K. H., 2017, In : Ultrasound in Obstetrics and Gynecology.

    Research output: Contribution to journalArticle

  42. Accuracy of competing risks model in screening for pre-eclampsia by maternal factors and biomarkers at 11-13 weeks' gestation

    O'Gorman, N. M., Wright, D., Poon, C. Y. L., Rolnik, D., Syngelaki, A., Wright, A., Akolekar, R., Cicero, S., Janga, D., Jani, J., Molina, F., De Paco, C., Papantoniou, N., Persico, N., Plasencia, W., Singh, M. & Nicolaides, K. H., 2017, In : Ultrasound in Obstetrics and Gynecology.

    Research output: Contribution to journalArticle

  43. Aspirin versus Placebo in Pregnancies at High Risk of Preterm Preeclampsia

    Rolnik, D., Wright, D., Poon, C. Y. L., O'Gorman, N. M., Syngelaki, A., De Paco, C., Akolekar, R., Cicero, S., Janga, D., Singh, M., Molina, F., Persico, N., Jani, J., Plasencia, W., Papaioannou, G. I., Tennebaum Gavish, K., Meiri, H., Gizurarson, S., Maclagan, K. & Nicolaides, K. H., 2017, In : New England Journal of Medicine.

    Research output: Contribution to journalArticle

  44. Multicenter screening for preeclampsia by maternal factors and biomarkers at 11-13 weeks’ gestation: comparison to NICE guidelines and ACOG recommendations

    O'Gorman, N. M., Wright, D., Poon, C. Y. L., Rolnik, D., Syngelaki, A., de Alvarado, M., Carbone, I. F., Dutemeyer, V., Fiolna, M., Frick, A., Karagiotis, N., Mastrodima, S., De Paco, C., Papaioannou, G. I., Pazos, A., Plasencia, W. & Nicolaides, K. H., 2017, In : Ultrasound in Obstetrics and Gynecology.

    Research output: Contribution to journalArticle

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