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101.
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)
102.
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)
103.
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)
104.
Gai, X.* et al.: Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am. J. Hum. Genet. 93, 482-495 (2013)
105.
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)
106.
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)
107.
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)
108.
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)
109.
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)
110.
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)
111.
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)
112.
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)
113.
Danhauser, K. et al.: DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am. J. Hum. Genet. 91, 1082-1087 (2012)
114.
Ellinghaus, D.* et al.: Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. Am. J. Hum. Genet. 90, 636-647 (2012)
115.
Franceschini, N.* et al.: Discovery and fine mapping of serum protein loci through transethnic meta-analysis. Am. J. Hum. Genet. 91, 744-753 (2012)
116.
Ghezzi, D.* et al.: Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am. J. Hum. Genet. 90, 1079-1087 (2012)
117.
Giehl, K.A.* et al.: Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am. J. Hum. Genet. 91, 754-759 (2012)
118.
Haack, T.B. et al.: Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, x-linked dominant form of NBIA. Am. J. Hum. Genet. 91, 1144-1149 (2012)
119.
Jeanne, M.* et al.: COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am. J. Hum. Genet. 90, 91-101 (2012)
120.
Mayr, J.A.* et al.: Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am. J. Hum. Genet. 90, 314-320 (2012)
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