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21.
Molatore, S. et al.: A novel germline CDKN1B mutation causing multiple endocrine tumors: Clinical, genetic and functional characterization. Hum. Mutat. 31, E1825-E1835 (2010)
22.
Fritsche, L.G.* et al.: Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene. Hum. Mutat. 30, 1048-1053 (2009)
23.
Collin, R.W.* et al.: Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum. Mutat. 28, 718-723 (2007)
24.
Fisher, S.A.* et al.: Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). Hum. Mutat. 28, 406-413 (2007)
25.
Schoenborn, V.* et al.: Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: To separate the wheat from the chaff. Hum. Mutat. 28, 1141-1149 (2007)
26.
Kalay, E.* et al.: Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 27, 633-639 (2006)
27.
Jaremko, M.* et al.: MALDI-TOF MS and TaqMan® assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET). Hum. Mutat. 25, 232-238 (2005)
28.
Rubie, C.* et al.: Sequence diversity of KIAA0027/MLC1: Are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Hum. Mutat. 21, 45-52 (2003)
29.
Calzada-Wack, J. et al.: Analysis of the PTCH Coding Region in Human Rhabdomyosarcoma. Hum. Mutat. 20, 233-234 (2002)
30.
von Brederlow, B.* et al.: Identification and In Vitro Expression of Novel CDH23 Mutations of Patients with Usher Syndrome Type 1D. Hum. Mutat. 19, 268-273 (2002)
31.
Werner, M. et al.: Large-Scale Determination of SNP Allele Frequencies in DNA Pools Using MALDI-TOF Mass Spectrometry. Hum. Mutat. 20, 57-64 (2002)
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