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1.
Estévez-Arias, B.* et al.: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01699-4 (2024)
2.
Estévez-Arias, B.* et al.: Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01756-y (2024)
3.
Ferrera, G.* et al.: WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: A case report. Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01745-1 (2024)
4.
Senftleber, N.K.* et al.: GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal. Eur. J. Hum. Genet. 32, 215-223 (2024)
5.
Vater, M.* et al.: Huntingtin CAG repeat size variations below the Huntington's disease threshold: Associations with depression, anxiety and basal ganglia structure. Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01737-1 (2024)
6.
Engel, C.* et al.: BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur. J. Hum. Genet. 31, 1023-1031 (2023)
7.
Figlioli, G.* et al.: FANCM missense variants and breast cancer risk: A case-control association study of 75,156 European women. Eur. J. Hum. Genet. 31, 578-587 (2023)
8.
Oexle, K. et al.: Episignature analysis of moderate effects and mosaics. Eur. J. Hum. Genet. 31, 1032-1039 (2023)
9.
Katsoula, G. et al.: A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis. Eur. J. Hum. Genet. 30, 557-557 (2022)
10.
Klingler, C.* et al.: Stakeholder engagement to ensure the sustainability of biobanks: A survey of potential users of biobank services. Eur. J. Hum. Genet., DOI: 10.1038/s41431-021-00905-x (2022)
11.
Reuter, M.S.* et al.: Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. Eur. J. Hum. Genet. 30, 611-618 (2022)
12.
Braunisch, M.C.* et al.: Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. Eur. J. Hum. Genet. 29, 262–270 (2021)
13.
Appelhof, B.* et al.: Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur. J. Hum. Genet. 29, 411–421 (2020)
14.
Sharma, R. et al.: Association between prenatal stress and infant DNA methylation. Eur. J. Hum. Genet. 28, 754-754 (2020)
15.
Alston, C.L.* et al.: Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. Eur. J. Hum. Genet. 27, 182-183 (2019)
16.
Alston, C.L.* et al.: Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. Eur. J. Hum. Genet. 27, 861-861 (2019)
17.
Beygo, J.* ; Bürger, J.* ; Strom, T.M. ; Kaya, S.* & Buiting, K.*: Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment. Eur. J. Hum. Genet. 27, 903-908 (2019)
18.
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)
19.
Iuso, A. et al.: Mutationsin phosphopantothenoylcysteine synthetase (PPCS) cause dilated cardiomyopathy. Eur. J. Hum. Genet. 27, 819-819 (2019)
20.
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)
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