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101.
Kopajtich, R. et al.: Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am. J. Hum. Genet. 59, 708-720 (2014)
102.
Lange, L.A.* et al.: Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am. J. Hum. Genet. 94, 233-245 (2014)
103.
Melchionda, L.* et al.: Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 95, 315-325 (2014)
104.
Schulte, E.C. et al.: Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome. Am. J. Hum. Genet. 95, 85-95 (2014)
105.
Simino, J.* et al.: Gene-age interactions in blood pressure regulation: A large-scale investigation with the CHARGE, Global BPgen, and ICBP consortia. Am. J. Hum. Genet. 95, 24-38 (2014)
106.
Synofzik, M.* et al.: Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am. J. Hum. Genet. 95, 689-697 (2014)
107.
Tragante, V.* et al.: Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am. J. Hum. Genet. 94, 349-360 (2014)
108.
Wang, S.R.* et al.: Simulation of finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. Am. J. Hum. Genet. 94, 710-720 (2014)
109.
Wieczorek, D.* et al.: Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am. J. Hum. Genet. 95, 698-707 (2014)
110.
Cheng, C.Y.* et al.: Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am. J. Hum. Genet. 93, 264-277 (2013)
111.
French, J.D.* et al.: Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am. J. Hum. Genet. 92, 489-503 (2013)
112.
Gai, X.* et al.: Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am. J. Hum. Genet. 93, 482-495 (2013)
113.
Haack, T.B. et al.: ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am. J. Hum. Genet. 93, 211-223 (2013)
114.
Hildick-Smith, G.J.* et al.: Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am. J. Hum. Genet. 93, 906-914 (2013)
115.
Hu, Y.J.* et al.: Meta-analysis of gene-level associations for rare variants based on single-variant statistics. Am. J. Hum. Genet. 93, 236-248 (2013)
116.
Oates, E.C.* et al.: Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am. J. Hum. Genet. 92, 965-973 (2013)
117.
Roosing, S.* et al.: Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 93, 110-117 (2013)
118.
Ameur, A.* et al.: Genetic adaptation of fatty-acid metabolism: A human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. Am. J. Hum. Genet. 90, 809-820 (2012)
119.
Asselbergs, F.W.* et al.: Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am. J. Hum. Genet. 91, 823-838 (2012)
120.
Beetz, C.* et al.: Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am. J. Hum. Genet. 91, 139-145 (2012)
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