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2022
Boegershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng-Jia 
ORCID: 0000-0002-7559-6529, Yigit, Goekhan, Huening, Irina, Polo, Anna M., Vona, Barbara ORCID: 0000-0002-6719-3447, Huang, Kevin ORCID: 0000-0002-2512-7812, Schmidt, Julia, Altmueller, Janine, Luppe, Johannes, Platzer, Konrad, Doergeloh, Beate B., Busche, Andreas, Biskup, Saskia, Mendes, Marisa, I, Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bueltmann, Eva, Nuernberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K. ORCID: 0000-0002-0429-1904, Hillen, Hauke S., Kratz, Christian P. and Wollnik, Bernd ORCID: 0000-0003-2589-0364
(2022).
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Hum. Mutat., 43 (10).
S. 1454 - 1472.
HOBOKEN:
WILEY.
ISSN 1098-1004
2021
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
2019
Thei, Arjan F., Botta, Elena, Raams, Anja, Smith, Desiree E. C., Mendes, Marisa, I, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia ORCID: 0000-0002-3924-4606, Carriero, Roberta, Liberi, Giordano, Zardoni, Luca, Swagemakers, Sigrid M. A., Salomons, Gajja S., Sarasin, Alain, Lehmann, Alan, van der Spek, Peter J., Ogi, Tomoo, Hoeijmakers, Jan H. J., Vermeulen, Wim ORCID: 0000-0003-3616-734X and orioli, Donata
(2019).
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Am. J. Hum. Genet., 105 (2).
S. 434 - 441.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605