Asif, M.* et al. Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia. Genet. Med. 26:101143 (2024) Ebstein, F.* et al. Biallelic USP14 variants cause a syndromic neurodevelopmental disorder. Genet. Med. 26:101120 (2024) Averdunk, L.* et al. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence. Genet. Med. 25:100836 (2023) Brunet, T.* et al. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. Genet. Med. 26:101013 (2023) Friedrich, U.A. et al. A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children. Genet. Med. 25:100875 (2023) Maroofian, R.* et al. Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder. Genet. Med. 26:101034 (2023) Park, J.* et al. Erratum: Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (Genetics in Medicine (2022) 24(10) (2079–2090), (S1098360022008437), (10.1016/j.gim.2022.07.006)). Genet. Med. 25:100961 (2023) Poggio, E.* et al. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. Genet. Med. 25:100971 (2023) Holtz, A.M.* et al. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet. Med. 24, 2065-2078 (2022) Meuwissen, M.* et al. Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder. Genet. Med. 24, 1583-1591 (2022) Oh, R.Y.* et al. Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome. Genet. Med. 24, 2399-2407 (2022) Park, J.* et al. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genet. Med. 24, 2079-2090 (2022) Vogel, G.F.* et al. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet. Med. 25:100314 (2022) Brunet, T.* et al. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet. Med. 23, 384–395 (2021) Dworschak, G.C.* et al. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet. Med. 23, 1715–1725 (2021) Klöckner, C.* et al. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet. Med. 23:796 (2021) Tremblay-Laganière, C.* et al. PIGG variant pathogenicity assessment reveals characteristic features within 19 families. Genet. Med. 23, 1873-1881 (2021) Wortmann, S.B.* et al. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genet. Med. 23, 1705-1714 (2021) Wortmann, S.B.* et al. Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genet. Med., DOI: 10.1038/s41436-021-01280-0 (2021) Baertling, F.* et al. Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia. Genet. Med. 22, 654-655 (2020) 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) 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) Singh, S.* et al. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. Genet. Med. 22, 1413–1417 (2020) Staufner, C.* et al. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. Genet. Med. 22, 610-621 (2020) 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) Wagner, M. et al. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genet. Med. 22, 1061-1068 (2020) 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) 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) 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) 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) Severin, F. et al. Economic evaluation of genetic screening for Lynch syndrome in Germany. Genet. Med. 17, 765-773 (2015)