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Journal of Clinical Investigation
Al-Olabi, L. and Polubothu, S. and Dowsett, K. and Andrews, K.A. and Stadnik, P. and Joseph, A.P. and Knox, R. and Pittman, A. and Clark, G. and Baird, W. and Bulstrode, N. and Glover, M. and Gordon, K. and Hargrave, D. and Huson, S.M. and Jacques, T.S. and James, G. and Kondolf, H. and Kangesu, L. and Keppler-Noreuil, K.M. and Khan, A. and Lindhurst, M.J. and Lipson, M. and Mansour, S. and O’Hara, J. and Mahon, C. and Mosica, A. and Moss, C. and Murthy, A. and Ong, J. and Parker, V.E. and Rivière, J.-B. and Sapp, J.C. and Sebire, N.J. and Shah, R. and Sivakumar, B. and Thomas, A. and Virasami, A. and Waelchli, R. and Zeng, Z. and Biesecker, L.G. and Barnacle, A. and Topf, Maya and Semple, R.K. and Patton, E.E. and Kinsler, V.A. (2018) Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. Journal of Clinical Investigation 128 (4), pp. 1496-1508. ISSN 0021-9738.
Movement Disorders
Carecchio, Miryam and Invernizzi, F. and Gonzàlez-Latapi, P. and Panteghini, C. and Zorzi, G. and Romito, L. and Leuzzi, V. and Galosi, S. and Reale, C. and Zibordi, F. and Joseph, A.P. and Topf, Maya and Piano, C. and Bentivoglio, A.R. and Girotti, F. and Morana, P. and Morana, B. and Kurian, M.A. and Garavaglia, B. and Mencacci, N.E. and Lubbe, S.J. and Nardocci, N. (2019) Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study. Movement Disorders 34 (10), pp. 1516-1527. ISSN 0885-3185.
Nature Communications
Menny, A. and Serna, M. and Boyd, C.M. and Gardner, S. and Joseph, A.P. and Morgan, B.P. and Topf, Maya and Brooks, N.J. and Bubeck, D. (2018) CryoEM reveals how the complement membrane attack complex ruptures lipid bilayers. Nature Communications 9 (1), ISSN 2041-1723.
Nucleic Acids Research
Malhotra, Sony and Mulvaney, T. and Cragnolini, Tristan and Sidhu, Haneesh and Joseph, A.P. and Beton, J.G. and Topf, Maya (2023) RIBFIND2: identifying rigid bodies in protein and nucleic acid structures. Nucleic Acids Research 51 (18), pp. 9567-9575. ISSN 0305-1048.