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1.
Blok, L.S.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nat. Commun. 10:883 (2019)
2.
Feichtinger, R.G.* et al.: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet. Med., accepted (2019)
3.
Snijders Blok, L.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nat. Commun. 10:2079 (2019)
4.
Wagner, M. et al.: Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease. J. Inherit. Metab. Dis., accepted (2019)
5.
Wortmann, S.B. & Mayr, J.A.*: Choline-related-inherited metabolic diseases - A mini review. J. Inherit. Metab. Dis. 42, 237-242 (2019)
6.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
7.
Alston, C.L.* et al.: Biallelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am. J. Hum. Genet. 103, 592-601 (2018)
8.
Danhauser, K. et al.: Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axaonal neuropathy. Am. J. Hum. Genet. 103, 817-825 (2018)
9.
Kovács-Nagy, R.* et al.: HTRA2 defect: A recognizable inborn error of metabolism with 3-methylglutaconic aciduria as discriminating feature characterized by neonatal movement disorder and epilepsy-report of 11 patients. Neuropediatrics 49, 373-378 (2018)
10.
Milev, M.P.* et al.: Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J. Med. Genet. 55, 753-764 (2018)
11.
O'Byrne, J.J.* et al.: The genotypic and phenotypic spectrum of MTO1 deficiency. Mol. Genet. Metab. 123, 28-42 (2018)
12.
Piekutowska-Abramczuk, D.* et al.: NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with leigh-like encephalomyopathy. Am. J. Hum. Genet. 102, 460-467 (2018)
13.
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
14.
Snijders Blok, L.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat. Commun. 9:4619 (2018)
15.
Distelmaier, F.* ; Haack, T.B. ; Wortmann, S.B. ; Mayr, J.A.* & Prokisch, H.: Treatable mitochondrial diseases: Cofactor metabolism and beyond. Brain 140:e11 (2017)
16.
El-Hattab, A.W.* et al.: Molecular and clinical spectra of FBXL4 deficiency. Hum. Mutat. 38, 1649-1659 (2017)
17.
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)
18.
Feichtinger, R.G.* et al.: Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies. Am. J. Hum. Genet. 101, 525-538 (2017)
19.
Habarou, F.* et al.: Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy. Am. J. Hum. Genet. 101, 283-290 (2017)
20.
Hempel, M.* et al.: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion 37, 55-61 (2017)