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41.
Schneider, R.* et al.: DAAM2 variants cause nephrotic syndrome via actin dysregulation. Am. J. Hum. Genet. 107, 1113-1128 (2020)
42.
Wagner, M. et al.: Bi-allelic variants in RALGAPA1 cause profound neurodevelopmental disability, muscular hypotonia, infantile spasms, and feeding abnormalities. Am. J. Hum. Genet. 106, 246-255 (2020)
43.
Wortmann, S.B. et al.: Bi-allelic variants in TKFC encoding triokinase/FMN cyclase are associated with cataracts and multisystem disease. Am. J. Hum. Genet. 106, 256-263 (2020)
44.
Cousin, M.A.* et al.: RINT1 Bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities. Am. J. Hum. Genet. 105, 108-121 (2019)
45.
Diets, I.J.* et al.: De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism. Am. J. Hum. Genet. 104, 758-766 (2019)
46.
Paine, I.* et al.: Paralog studies augment gene discovery: DDX and DHX genes. Am. J. Hum. Genet. 105, 302-316 (2019)
47.
Reynhout, S.* et al.: De novo mutations affecting the catalytic Cα subunit of PP2A (PPP2CA) cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders. Am. J. Hum. Genet. 104, 139-156 (2019)
48.
Spracklen, C.N.* et al.: Exome-derived adiponectin-associated variants implicate obesity and lipid biology. Am. J. Hum. Genet. 105, 15-28 (2019)
49.
Alston, C.L.* et al.: Biallelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am. J. Hum. Genet. 103, 592-601 (2018)
50.
Brechtmann, F.* et al.: OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data. Am. J. Hum. Genet. 103, 907-917 (2018)
51.
Danhauser, K. et al.: Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axaonal neuropathy. Am. J. Hum. Genet. 103, 817-825 (2018)
52.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
53.
Ligthart, S.* et al.: Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders. Am. J. Hum. Genet. 103, 691-706 (2018)
54.
Piekutowska-Abramczuk, D.* et al.: NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with leigh-like encephalomyopathy. Am. J. Hum. Genet. 102, 460-467 (2018)
55.
Reijnders, M.R.F.* et al.: De novo and inherited loss-of-function variants in TLK2: Clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder. Am. J. Hum. Genet. 102, 1195-1203 (2018)
56.
Sung, Y.J.* et al.: A large-scale multi-ancestry genome-wide study accounting for smoking behavior identifies multiple significant loci for blood pressure. Am. J. Hum. Genet. 102, 375-400 (2018)
57.
Vasileiou, G.* et al.: Mutations in the BAF-complex subunit DPF2 are associated with coffin-siris syndrome. Am. J. Hum. Genet. 102, 468-479 (2018)
58.
Wesdorp, M.* et al.: MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse. Am. J. Hum. Genet. 103, 74-88 (2018)
59.
Xu, Z.* et al.: Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function. Am. J. Hum. Genet. 103, 100-114 (2018)
60.
Ait-El-Mkadem, S.* et al.: Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy. Am. J. Hum. Genet. 100, 151-159 (2017)
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