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1.
Trieschmann, G.* ; Wilhelm, C.* ; Berweck, S.* & Zech, M.: De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia. Eur. J. Med. Genet. 66:104802 (2023)
2.
Harrer, P. et al.: A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).". Eur. J. Med. Genet. 65:104635 (2022)
3.
Krenn, M.* et al.: A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability. Eur. J. Med. Genet. 65:104423 (2022)
4.
Illsinger, S.* et al.: Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. Eur. J. Med. Genet. 63:104046 (2020)
5.
Mercati, O.* et al.: PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review. Eur. J. Med. Genet. 63:104033 (2020)
6.
Kloth, K.* et al.: First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features. Eur. J. Med. Genet. 60, 494-498 (2017)
7.
Pozojevic, J.* et al.: Novel mosaic variants in two patients with Cornelia de Lange syndrome. Eur. J. Med. Genet. 61, 680-684 (2017)
8.
Bürk, K.* et al.: A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. Eur. J. Med. Genet. 57, 207-211 (2014)
9.
Auer-Grumbach, M.* et al.: Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. Eur. J. Med. Genet. 56, 266-269 (2013)
10.
Oexle, K.* et al.: 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. Eur. J. Med. Genet. 54, 225-230 (2011)
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