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1.
de Sainte Agathe, J.M.* et al.: ARF1-related disorder: Phenotypic and molecular spectrum. J. Med. Genet. 60, 999-1005 (2023)
2.
Laugwitz, L.* et al.: Human COQ4 deficiency: Delineating the clinical, metabolic and neuroimaging phenotypes. J. Med. Genet. 59, 878–887 (2022)
3.
Liu, Z.* et al.: Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy. J. Med. Genet. 59, 351-357 (2021)
4.
Schalk, A.* et al.: De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J. Med. Genet. 59, 965-975 (2021)
5.
Krenn, M.* et al.: Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. J. Med. Genet. 57, 624-633 (2020)
6.
Beyerlein, A. et al.: Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: Results from the prospective TEDDY study. J. Med. Genet. 56, 602-605 (2018)
7.
Milev, M.P.* et al.: Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J. Med. Genet. 55, 753-764 (2018)
8.
Röeben, B.* et al.: SERAC1 deficiency causes complicated HSP: Evidence from a novel splice mutation in a large family. J. Med. Genet. 55, 39-47 (2018)
9.
Platzer, K.* et al.: GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J. Med. Genet. 54, 460-470 (2017)
10.
Reijnders, M.R.* et al.: PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J. Med. Genet. 55, 104-113 (2017)
11.
Alston, C.L.* et al.: A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J. Med. Genet. 53, 634-641 (2016)
12.
Koch, J.* et al.: Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J. Med. Genet. 53, 270-278 (2016)
13.
Hollstein, R.* et al.: HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J. Med. Genet. 52, 797-803 (2015)
14.
Jackson, C.B.* et al.: Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. J. Med. Genet. 51, 170-175 (2014)
15.
Haack, T.B. et al.: Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J. Med. Genet. 49, 83-89 (2012)
16.
Haack, T.B. et al.: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J. Med. Genet. 49, 277-283 (2012)
17.
Klopocki, E.* et al.: Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J. Med. Genet. 49, 119-125 (2012)
18.
Sharma, M.* et al.: A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J. Med. Genet. 49, 721-726 (2012)
19.
van den Bosch, B.J.* et al.: Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. J. Med. Genet. 49, 10-15 (2012)
20.
Rivera-Brugues, N. et al.: Cohen syndrome diagnosis using whole genome arrays. J. Med. Genet. 48, 136-140 (2011)
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