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141.
Teumer, A.* et al.: Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. Am. J. Hum. Genet. 88, 664-673 (2011)
142.
Bandah-Rozenfeld, D.* et al.: Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 87, 199-208 (2010)
143.
Lorenz-Depiereux, B. ; Schnabel, D.* ; Tiosano, D.* ; Häusler, G.* & Strom, T.M.: Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am. J. Hum. Genet. 86, 267-272 (2010)
144.
Nikopoulos, K.* et al.: Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am. J. Hum. Genet. 86, 240-247 (2010)
145.
Schraders, M.* et al.: Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am. J. Hum. Genet. 86, 604-610 (2010)
146.
Landi, M.T.* et al.: A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am. J. Hum. Genet. 85, 679-691 (2009)
147.
Meisinger, C. et al.: A genome-wide association study identifies three loci associated with mean platelet volume. Am. J. Hum. Genet. 84, 66-71 (2009)
148.
Parry, D.A.* et al.: Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am. J. Hum. Genet. 84, 683-691 (2009)
149.
Thiadens, A.A.H.J.* et al.: Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. 85, 240-247 (2009)
150.
Collin, R.W.* et al.: Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am. J. Hum. Genet. 83, 594-603 (2008)
151.
Lasky-Su, J.* et al.: On the replication of genetic associations: Timing can be everything! Am. J. Hum. Genet. 82, 849-858 (2008)
152.
Luca, D.* et al.: On the use of general control samples for genome-wide association studies: Genetic matching highlights causal variants. Am. J. Hum. Genet. 82, 453-463 (2008)
153.
Ramser, J.* et al.: Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am. J. Hum. Genet. 82, 188-193 (2008)
154.
Wagenstaller, J. et al.: Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am. J. Hum. Genet. 81, 768-779 (2007)
155.
Billingsley, G.* et al.: CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am. J. Hum. Genet. 79, 702-709 (2006)
156.
den Hollander, A.I.* et al.: Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis. Am. J. Hum. Genet. 79, 556-561 (2006)
157.
Lorenz-Depiereux, B. et al.: Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am. J. Hum. Genet. 78, 193-201 (2006)
158.
Mueller, J.C. et al.: Linkage disequilibrium patterns and tagSNP transferability among European populations. Am. J. Hum. Genet. 76, 387-398 (2005)
159.
Geller, F.* et al.: Melanocortin-4 receptor gene variant I103 is negatively associated with obesity. Am. J. Hum. Genet. 74, 572-581 (2004)
160.
Weedon, M.N.* et al.: Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am. J. Hum. Genet. 73, 1208-1212 (2003)
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