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Mahler, E.A.* et al.: Exome sequencing in children undiagnosed developmental delay and neurological illness. Dtsch. Arztebl. Int. 116, 197-204 (2019)
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
Iuso, A. et al.: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy. JIMD Rep., accepted (2018)
Lenz, D.* et al.: SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet. Med. 20, 1255-1265 (2018)
Puusepp, S.* et al.: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. Eur. J. Hum. Genet. 26, 407-419 (2018)
Röeben, B.* et al.: SERAC1 deficiency causes complicated HSP: Evidence from a novel splice mutation in a large family. J. Med. Genet. 55, 39-47 (2018)
Wagner, M. et al.: Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy. Neuropediatrics 49, 59-62 (2018)
Baertling, F.* et al.: Neonatal encephalocardiomyopathy caused by mutations in VARS2. Metab. Brain Dis. 32, 267-270 (2017)
Braunisch, M.C.* et al.: Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Clin. Genet. 93, 255-265 (2017)
Bublitz, S.K.* et al.: Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Clin. Genet. 92, 561-562 (2017)
Feichtinger, R.G.* et al.: Combined respiratory chain deficiency and UQCC2 mutations in neonatal encephalomyopathy: Defective supercomplex assembly in complex III deficiencies. Oxid. Med. Cell. Longev. 2017:7202589 (2017)
Hempel, M.* et al.: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion 37, 55-61 (2017)
Herebian, D.* et al.: Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. Eur. J. Hum. Genet. 25, 1092-1095 (2017)
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
Riedhammer, K.M.* et al.: Identification of a novel heterozygous de novo 7-bp frameshift deletion in PBX1 by whole-exome sequencing causing a multi-organ syndrome including bilateral dysplastic kidneys and hypoplastic clavicles. Front. Pediatr. 5:251 (2017)
Umair, M.* et al.: Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3. Pediatr. Res. 82, 753-758 (2017)
Vill, K.* et al.: A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. Mov. Disord. 32, 797-799 (2017)
Wambach, J.A.* et al.: Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum. Mutat. 38, 1477-1484 (2017)
Wortmann, S.B. et al.: Mild orotic aciduria in UMPS heterozygotes: A metabolic finding without clinical consequences. J. Inherit. Metab. Dis. 40, 423-431 (2017)