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Journal Article

Becker, Lena-Luise ORCID: 0000-0003-4622-8695, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas ORCID: 0000-0002-0119-5896, Bok, Levinus, Rodan, Lance, Krapels, Ingrid, Spranger, Stephanie, Weschke, Bernhard, Johnson, Katherine, Straub, Volker, Kaindl, Angela M., Di Donato, Nataliya ORCID: 0000-0001-9439-4677, von der Hagen, Maja and Cirak, Sebahattin (2020). The clinical-phenotype continuum inDYNC1H1-related disorders-genomic profiling and proposal for a novel classification. J. Hum. Genet., 65 (11). S. 1003 - 1018. LONDON: SPRINGERNATURE. ISSN 1435-232X

Hartmann, Bianca, Wai, Timothy ORCID: 0000-0002-6770-6222, Hu, Hao, MacVicar, Thomas, Musante, Luciana, Fischer-Zirnsak, Bjoern, Stenzel, Werner, Graef, Ralph, van den Heuvel, Lambert, Ropers, Hans-Hilger, Wienker, Thomas F., Huebner, Christoph, Langer, Thomas ORCID: 0000-0003-1250-1462 and Kaindl, Angela M. (2016). Homozygous YME1L1 Mutation Causes Mitochondriopathy with Optic Atrophy and Mitochondrial Network Fragmentation. eLife, 5. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X

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