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81.
Kremer, L.S. et al.: Biallelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358-362 (2016)
82.
Kremer, L.S. et al.: NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood. Am. J. Hum. Genet. 99, 894-902 (2016)
83.
Lesage, S.* et al.: Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy. Am. J. Hum. Genet. 98, 500-513 (2016)
84.
Olsen, R.K.* et al.: Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am. J. Hum. Genet. 98, 1130-1145 (2016)
85.
Wade, E.M.* et al.: Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. Am. J. Hum. Genet. 99, 392-406 (2016)
86.
Zech, M. et al.: Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia. Am. J. Hum. Genet. 99, 1377-1387 (2016)
87.
Baurecht, H.* et al.: Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. Am. J. Hum. Genet. 96, 104-120 (2015)
88.
Brea-Calvo, G.* et al.: COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am. J. Hum. Genet. 96, 309-317 (2015)
89.
Chan, Y.* et al.: Genome-wide analysis of body proportion classifies height-associated variants by mechanism of action and implicates genes important for skeletal development. Am. J. Hum. Genet. 96, 695-708 (2015)
90.
Haack, T.B. et al.: Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am. J. Hum. Genet. 97, 163-169 (2015)
91.
Hadchouel, A.* et al.: Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island. Am. J. Hum. Genet. 96, 826-831 (2015)
92.
Hempel, M.* et al.: De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493-500 (2015)
93.
Powell, C.A.* et al.: TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies. Am. J. Hum. Genet. 97, 319-328 (2015)
94.
Stuart, P.E.* et al.: Genome-wide association analysis of psoriatic arthritis and cutaneous psoriasis reveals differences in their genetic architecture. Am. J. Hum. Genet. 97, 816-836 (2015)
95.
Wortmann, S.B.* et al.: CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am. J. Hum. Genet. 96, 245-257 (2015)
96.
Zech, M. et al.: Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am. J. Hum. Genet. 96, 883-893 (2015)
97.
Chan, Y.* et al.: An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. Am. J. Hum. Genet. 94, 437-452 (2014)
98.
Dusi, S.* et al.: Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 94, 11-22 (2014)
99.
Ganesh, S.K.* et al.: Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations. Am. J. Hum. Genet. 95, 49-65 (2014)
100.
Kapoor, A.* et al.: An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. Am. J. Hum. Genet. 94, 854-869 (2014)
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