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41.
Paine, I.* et al.: Paralog studies augment gene discovery: DDX and DHX genes. Am. J. Hum. Genet. 105, 302-316 (2019)
42.
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)
43.
Spracklen, C.N.* et al.: Exome-derived adiponectin-associated variants implicate obesity and lipid biology. Am. J. Hum. Genet. 105, 15-28 (2019)
44.
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)
45.
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)
46.
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)
47.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
48.
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)
49.
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)
50.
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)
51.
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)
52.
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)
53.
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)
54.
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)
55.
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)
56.
Anikster, Y.* et al.: Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am. J. Hum. Genet. 100, 257-266 (2017)
57.
Carrat, G.R.* et al.: Decreased STARD10 expression is associated with defective insulin secretion in humans and mice. Am. J. Hum. Genet. 100, 238-256 (2017)
58.
Feichtinger, R.G.* et al.: Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies. Am. J. Hum. Genet. 101, 525-538 (2017)
59.
Habarou, F.* et al.: Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy. Am. J. Hum. Genet. 101, 283-290 (2017)
60.
Kim, H.I.* et al.: Fine mapping and functional analysis reveal a role of SLC22A1 in acylcarnitine transport. Am. J. Hum. Genet. 101, 489-502 (2017)
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