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21.
Gusic, M. et al.: Recessive mutations in UQCRFS1, encoding the Rieske iron-sulfur protein, are associated with mitochondrial complex III deficiency, lactic acidosis and cardiomyopathy. Eur. J. Hum. Genet. 27, 186-186 (2019)
22.
Iuso, A. et al.: Mutationsin phosphopantothenoylcysteine synthetase (PPCS) cause dilated cardiomyopathy. Eur. J. Hum. Genet. 27, 819-819 (2019)
23.
Kuechler, A.* et al.: De novo FBXO11 mutations are associated with intellectual disability, microcephaly and behavioural anomalies. Eur. J. Hum. Genet. 27, 228-229 (2019)
24.
Marlin, S.* et al.: PRPS1loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy. Eur. J. Hum. Genet. 27, 1239-1239 (2019)
25.
Mertes, C.* et al.: When the outlier is the signal: Denoising autoencoders to pinpoint causes of rare diseases from RNA-seq data. Eur. J. Hum. Genet. 27, 1711-1712 (2019)
26.
Oplopoiou, M.* et al.: The role of Trp53 in chemical-induced lung adenocarcinoma. Eur. J. Hum. Genet. 27, 470-471 (2019)
27.
Parenti, I.* et al.: Novel gene and pathomechanism in Cornelia de Lange syndrome. Eur. J. Hum. Genet. 27, 830-831 (2019)
28.
Piekutowska-Abramczuk, D.* et al.: Novel FDXR pathogenic variants expand the clinical spectrum related to human ferredoxin reductase defects. Eur. J. Hum. Genet. 27, 172-173 (2019)
29.
Pollazzon, M.* et al.: Patient with a novel variant in CREBBP exon 31 and without a typical Rubinstein-Taybi phenotype. Eur. J. Hum. Genet. 27, 354-354 (2019)
30.
Riedhammer, K.M.* et al.: Exome sequencing identifies phenocopies in every fifth solved case in a cohort of 174 patients with hereditary nephropathies. Eur. J. Hum. Genet. 27, 1145-1146 (2019)
31.
Sorg, T.* et al.: Generation of the Cancer Pathway Prototype - a platform for predictive cancer pathway modeling. Eur. J. Hum. Genet. 27, 571-572 (2019)
32.
Stalke, A.* et al.: Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export. Eur. J. Hum. Genet. 27, 879-887 (2019)
33.
Stenton, S. et al.: The genetic landscape of mitochondrial disease: A study of 1116 exomes. Eur. J. Hum. Genet. 27, 816-817 (2019)
34.
Tilch, E. et al.: Explaining RLS families using risk SNPs from GWAS. Eur. J. Hum. Genet. 27, 658-659 (2019)
35.
Van Bergen, N.J.* et al.: NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses. Eur. J. Hum. Genet. 27, 751-752 (2019)
36.
van Setten, J.* et al.: Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. Eur. J. Hum. Genet. 27, 952-962 (2019)
37.
Vasileiou, G.* et al.: Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome. Eur. J. Hum. Genet. 27, 805-806 (2019)
38.
Verheije, R.* et al.: Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. Eur. J. Hum. Genet. 27, 278-290 (2019)
39.
Vidali, S.* et al.: A homozygous two exon deletion in UQCRH: Matching mouse and human phenotype. Eur. J. Hum. Genet. 27, 818-819 (2019)
40.
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)
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