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141.
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)
142.
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)
143.
Lasky-Su, J.* et al.: On the replication of genetic associations: Timing can be everything! Am. J. Hum. Genet. 82, 849-858 (2008)
144.
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)
145.
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)
146.
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)
147.
Billingsley, G.* et al.: CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am. J. Hum. Genet. 79, 702-709 (2006)
148.
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)
149.
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)
150.
Mueller, J.C. et al.: Linkage disequilibrium patterns and tagSNP transferability among European populations. Am. J. Hum. Genet. 76, 387-398 (2005)
151.
Geller, F.* et al.: Melanocortin-4 receptor gene variant I103 is negatively associated with obesity. Am. J. Hum. Genet. 74, 572-581 (2004)
152.
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)
153.
Weiland, Y. ; Kraus, J. & Speicher, M.R.: A multicolor fish assay does not detect DUP25 in control individuals or in reported positive control cells. Am. J. Hum. Genet. 72, 1349-1352 (2003)
154.
Froenicke, L.* ; Anderson, L.K.* ; Wienberg, J. & Ashley, T.*: Male Mouse Recombination Maps for Each Autosome Identified by Chromosome Painting. Am. J. Hum. Genet. 71, 1353-1368 (2002)
155.
Altmüller, J. ; Palmer, L.J.* ; Fischer, G. ; Scherb, H. & Wjst, M.: Genomewide Scans of Complex Human Diseases : True Linkage is Hard to Find. Am. J. Hum. Genet. 69, 936-950 (2001)
156.
Zhu, X.* et al.: Localization of a Small Genomic Region Associated with Elevated ACE. Am. J. Hum. Genet. 67, 1144-1153 (2000)
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