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21.
Klöckner, C.* et al.: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet. Med., DOI: 10.1038/s41436-020-01020-w (2020)
22.
Lenz, D.* et al.: Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet. Med. 22, 1863-1873 (2020)
23.
Singh, S.* et al.: De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. Genet. Med. 22, 1413–1417 (2020)
24.
Staufner, C.* et al.: Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. Genet. Med. 22, 610-621 (2020)
25.
van Rijt, W.J.* et al.: Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genet. Med. 22, 908–916 (2020)
26.
Wagner, M. et al.: Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genet. Med. 22, 1061-1068 (2020)
27.
Feichtinger, R.G.* et al.: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet. Med. 21, 2521-2531 (2019)
28.
Fountain, M.D.* et al.: Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet. Med. 21, 1797-1807 (2019)
29.
Khan, K.* et al.: Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genet. Med. 21, 2532-2542 (2019)
30.
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)
31.
Severin, F. et al.: Economic evaluation of genetic screening for Lynch syndrome in Germany. Genet. Med. 17, 765-773 (2015)
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