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Journal Article
Adamo, Christin S. 
ORCID: 0000-0002-8560-6153, Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R., Tufa, Sara F., Morgelin, Matthias, Brinckmann, Jurgen, Sasaki, Takako, Niehoff, Anja, Dreiner, Maren, Pottie, Lore, Muino-Mosquera, Laura, Gulec, Elif Yilmaz, Gezdirici, Alper ORCID: 0000-0002-2432-9279, Braghetta, Paola, Bonaldo, Paolo, Wagener, Raimund, Paulsson, Mats, Bornaun, Helen, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Devine, Walter P., Gangaram, Balram, Tam, Allison ORCID: 0000-0001-6940-9240, Balasubramanian, Meena ORCID: 0000-0003-1488-3695, Ellard, Sian, Moore, Sandra, Symoens, Sofie, Shen, Joseph, Cole, Stacey, Schwarze, Ulrike, Holmes, Kathryn W., Hayflick, Susan J., Wiszniewski, Wojciech, Nampoothiri, Sheela, Davis, Elaine C., Sakai, Lynn Y., Sengle, Gerhard and Callewaert, Bert
(2022).
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am. J. Hum. Genet., 109 (12).
S. 2230 - 2254.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Botta, Elena, Theil, Arjan F., Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E. C., Mendes, Marisa, I, Swagemakers, Sigrid M. A., Van der Spek, Peter J., Salomons, Gajja S., Hoeijmakers, Jan H. J., Yesodharan, Dhanya, Nampoothiri, Sheela ORCID: 0000-0002-9575-0722, Ogi, Tomoo, Lehmann, Alan R., Orioli, Donata and Vermeulen, Wim ORCID: 0000-0003-3616-734X
(2021).
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Hum. Mol. Genet., 30 (18).
S. 1711 - 1721.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Syx, Delfien, Ishikawa, Yoshihiro ORCID: 0000-0003-2013-0518, Gebauer, Jan ORCID: 0000-0002-3989-4748, Boudko, Sergei P., Guillemyn, Brecht ORCID: 0000-0001-7194-6651, Van Damme, Tim ORCID: 0000-0002-6424-4421, D'hondt, Sanne, Symoens, Sofie, Nampoothiri, Sheela ORCID: 0000-0002-9575-0722, Gould, Douglas B., Baumann, Ulrich, Bachinger, Hans Peter and Malfait, Fransiska
(2021).
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
PLoS Genet., 17 (2).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7404