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1.
Hammann, N.* et al.: Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease. Mol. Genet. Metab. 141:108118 (2024)
2.
Morales-Romero, B.* et al.: Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing. Mol. Genet. Metab. 142:108511 (2024)
3.
van der Ven, A.T.* et al.: Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease. Mol. Genet. Metab. 140:107675 (2023)
4.
Friederich, M.W.* et al.: Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol. Genet. Metab. 133, 362-371 (2021)
5.
Conte, F.* et al.: Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Mol. Genet. Metab. 131, 135-146 (2020)
6.
O'Byrne, J.J.* et al.: The genotypic and phenotypic spectrum of MTO1 deficiency. Mol. Genet. Metab. 123, 28-42 (2018)
7.
Herebian, D.* et al.: Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics. Mol. Genet. Metab. 121, 216-223 (2017)
8.
Falk, M.J.* et al.: Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol. Genet. Metab. 114, 388-396 (2015)
9.
Banka, S.* et al.: Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations. Mol. Genet. Metab. 113, 301-306 (2014)
10.
Haack, T.B. et al.: Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Mol. Genet. Metab. 111, 342-352 (2014)
11.
Kraja, A.T.* et al.: Pleiotropic genes for metabolic syndrome and inflammation. Mol. Genet. Metab. 112, 317-338 (2014)
12.
Danhauser, K. et al.: Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. Mol. Genet. Metab. 103, 161-166 (2011)
13.
John, G. et al.: NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT. Mol. Genet. Metab. 104, 174-179 (2011)
14.
Mayr, J.A.* et al.: Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol. Genet. Metab. 103, 358-361 (2011)
15.
Fisher, E.* et al.: Evidence for the Thr79Met polymorphism of the ileal fatty acid binding protein (FABP6) to be associated with type 2 diabetes in obese individuals. Mol. Genet. Metab. 98, 400-405 (2009)
16.
Böhme, M.* et al.: MTTP variants and body mass index, waist circumference and serum cholesterol level: Association analyses in 7582 participants of the KORA study cohort. Mol. Genet. Metab. 95, 229-232 (2008)
17.
Müller, T.D.* et al.: No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents. Mol. Genet. Metab. 90, 429-434 (2007)
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