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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. Disorder-Specific and Shared Brain Abnormalities During Vigilance in Autism and Obsessive-Compulsive Disorder

    Carlisi, C. O., Norman, L., Murphy, C., Christakou, A., Chantiluke, K., Giampietro, V., Simmons, A., Brammer, M., Murphy, D. G., AIMS Consortium, Mataix-Cols, D. & Rubia, K., Nov 2017, In : Biological Psychiatry: Cognitive Neuroscience and Neuroimaging. 2, 8, p. 644-654

    Research output: Contribution to journalArticle

  6. Cortical responses before six months of life associate with later autism

    Lloyd-Fox, S., Blasi, A., Pasco, G., Gliga, T., Jones, E., Murphy, D. G., Elwell, C. E., Charman, T. & Johnson, M., 23 Oct 2017, In : European Journal of Neuroscience.

    Research output: Contribution to journalArticle

  7. Glutamatergic Agents in the Treatment of Compulsivity and Impulsivity in Child and Adolescent Psychiatry: a Systematic Review of the Literature

    Mechler, K., Häge, A., Schweinfurth, N., Glennon, J. C., Dijkhuizen, R. M., Murphy, D., Durston, S., Williams, S., Buitelaar, J. K., Banaschewski, T., Dittmann, R. W. & Tactics Consortium, T., 18 Sep 2017, In : ZEITSCHRIFT FUR KINDER UND JUGENDPSYCHIATRIE UND PSYCHOTHERAPIE. p. 246-263

    Research output: Contribution to journalArticle

  8. 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

  9. 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

  10. 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

  11. 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

  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. Mother-infant interactions and regional brain volumes in infancy: an MRI study

    Sethna, V., Pote, I., Wang, S., Gudbrandsen, M., Blasi, A., McCusker, C., Daly, E., Perry, E., Adams, K. P. H., Kuklisova-Murgasova, M., Busuulwa, P., Lloyd-Fox, S., Murray, L., Johnson, M. H., Williams, S. C. R., Murphy, D. G. M., Craig, M. C. & McAlonan, G. M., Jul 2017, In : Brain structure & function. 222, 5, p. 2379-2388

    Research output: Contribution to journalArticle

  17. 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

  18. 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

  19. The EU-AIMS Longitudinal European Autism Project (LEAP): Clinical characterisation

    Charman, T., Loth, E., Tillmann, J., Crawley, D., Wooldridge, C., Goyard, D., Ahmad, J., Auyeung, B., Ambrosino, S., Banaschewski, T., Baron-Cohen, S., Baumeister, S., Beckmann, C., Bölte, S., Bourgeron, T., Bours, C., Brammer, M., Brandeis, D., Brogna, C., De Bruijn, Y. & 45 others, Chakrabarti, B., Cornelissen, I., Dell' Acqua, F., Dumas, G., Durston, S., Ecker, C., Faulkner, J., Frouin, V., Garcés, P., Ham, L., Hayward, H., Hipp, J., Holt, R. J., Isaksson, J., Johnson, M. H., Jones, E. J. H., Kundu, P., Lai, M. C., D'ardhuy, X. L., Lombardo, M. V., Lythgoe, D. J., Mandl, R., Mason, L., Meyer-Lindenberg, A., Moessnang, C., Mueller, N., O'Dwyer, L., Oldehinkel, M., Oranje, B., Pandina, G., Persico, A. M., Ruggeri, B., Ruigrok, A. N. V., Sabet, J., Sacco, R., Cáceres, A. S. J., Simonoff, E., Toro, R., Tost, H., Waldman, J., Williams, S. C. R., Zwiers, M. P., Spooren, W., Murphy, D. G. M. & Buitelaar, J. K., 23 Jun 2017, In : Molecular Autism. 8, 1, 27.

    Research output: Contribution to journalArticle

  20. The EU-AIMS Longitudinal European Autism Project (LEAP): Design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders

    Loth, E., Charman, T., Mason, L., Tillmann, J., Jones, E. J. H., Wooldridge, C., Ahmad, J., Auyeung, B., Brogna, C., Ambrosino, S., Banaschewski, T., Baron-Cohen, S., Baumeister, S., Beckmann, C., Brammer, M., Brandeis, D., Bölte, S., Bourgeron, T., Bours, C., De Bruijn, Y. & 45 others, Chakrabarti, B., Crawley, D., Cornelissen, I., Dell' Acqua, F., Dumas, G., Durston, S., Ecker, C., Faulkner, J., Frouin, V., Garces, P., Goyard, D., Hayward, H., Ham, L. M., Hipp, J., Holt, R. J., Johnson, M. H., Isaksson, J., Kundu, P., Lai, M. C., D'ardhuy, X. L., Lombardo, M. V., Lythgoe, D. J., Mandl, R., Meyer-Lindenberg, A., Moessnang, C., Mueller, N., O'Dwyer, L., Oldehinkel, M., Oranje, B., Pandina, G., Persico, A. M., Ruigrok, A. N. V., Ruggeri, B., Sabet, J., Sacco, R., Cáceres, A. S. J., Simonoff, E., Toro, R., Tost, H., Waldman, J., Williams, S. C. R., Zwiers, M. P., Spooren, W., Murphy, D. G. M. & Buitelaar, J. K., 23 Jun 2017, In : Molecular Autism. 8, 1, 24.

    Research output: Contribution to journalArticle

  21. 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

  22. 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

  23. 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

  24. 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

  25. Family therapy for autism spectrum disorders

    Spain, D., Sin, J., Paliokosta, E., Furuta, M., Prunty, J. E., Chalder, T., Murphy, D. G. & Happe, F. G., 16 May 2017, In : Cochrane Database of Systematic Reviews. 2017, 5, p. 1-35 35 p., CD011894.

    Research output: Contribution to journalArticle

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. Association Between the Probability of Autism Spectrum Disorder and Normative Sex-Related Phenotypic Diversity in Brain Structure

    Ecker, C., Andrews, D. S., Gudbrandsen, C. M., Marquand, A. F., Ginestet, C. E., Daly, E. M., Murphy, C., Lai, M-C., Lombardo, M. V., Ruigrok, A. N. V., Bullmore, E. T., Suckling, J., Williams, S. C. R., Baron-Cohen, S., Craig, M. C., Murphy, D. G. M. & Medical Research Council Autism Imaging Multicentre Study (MRC AIMS) Consortium, 1 Apr 2017, In : JAMA Psychiatry. 74, 4, p. 329-338 10 p.

    Research output: Contribution to journalArticle

  32. 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

  33. 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

  34. On the brain structure heterogeneity of autism: Parsing out acquisition site effects with significance-weighted principal component analysis

    Martinez-Murcia, F. J., Lai, M. C., Górriz, J. M., Ramírez, J., Young, A. M. H., Deoni, S. C. L., Ecker, C., Lombardo, M. V., Baron-Cohen, S., Murphy, D. G. M., Bullmore, E. T., Suckling, J., Bailey, A. J., Baron-Cohen, S., Bolton, P. F., Bullmore, E. T., Carrington, S., Catani, M., Chakrabarti, B., Craig, M. C. & 22 others, Daly, E. M., Deoni, S. C. L., Ecker, C., Happé, F., Henty, J., Jezzard, P., Johnston, P., Jones, D. K., Lai, M. C., Lombardo, M. V., Madden, A., Mullins, D., Murphy, C. M., Murphy, D. G. M., Pasco, G., Ruigrok, A. N. V., Sadek, S. A., Spain, D., Stewart, R., Suckling, J., Wheelwright, S. J. & Williams, S. C., 1 Mar 2017, In : Human Brain Mapping. 38, 3, p. 1208-1223 16 p.

    Research output: Contribution to journalArticle

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. In Vivo Evidence of Reduced Integrity of the Gray-White Matter Boundary in Autism Spectrum Disorder

    Andrews, D. S., Avino, T. A., Gudbrandsen, M., Daly, E., Marquand, A., Murphy, C. M., Lai, M-C., Lombardo, M. V., Ruigrok, A. N. V., Williams, S. C., Bullmore, E. T., The Mrc Aims Consortium, U., Suckling, J., Baron-Cohen, S., Craig, M. C., Murphy, D. G. M. & Ecker, C., 4 Jan 2017, In : Cerebral cortex (New York, N.Y. : 1991). 11 p.

    Research output: Contribution to journalArticle

  42. 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

  43. 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

  44. 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

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