Nanna Dahl Rendtorff

Identification of p.A684V missense mutation in the <i>WFS1</i> gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Nanna Dahl Rendtorff, Marianne Lodahl, Houda Boulahbel et al. · American Journal of Medical Genetics Part A · 2011 · 119 citations · Full text

Optic Atrophy-1 Gene, Mendelian Disorder, Genetic Disorder +13

Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

K. M. Sanggaard, Nanna Dahl Rendtorff, Klaus Kjaer et al. · European Journal of Human Genetics · 2007 · 72 citations · Full text

Urology, Six1 Mutations, Mendelian Disorder +12

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

Jorieke E. H. Bergman, Nicole Janssen, Almer M. van der Sloot et al. · Human Mutation · 2012 · 72 citations · Full text

Genetics, Genetic Epidemiology, Pathology +18

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment

Nanna Dahl Rendtorff, Mei Zhu, Toril Fagerheim et al. · European Journal of Human Genetics · 2006 · 67 citations · Full text

Developmental Biology, Hereditary Hearing Impairment, Mendelian Disorder +10

Analysis of 65 tuberous sclerosis complex (TSC) patients by<i>TSC2</i>DGGE,<i>TSC1</i>/<i>TSC2</i>MLPA, and<i>TSC1</i>long-range PCR sequencing, and report of 28 novel mutations

Nanna Dahl Rendtorff, Bolette Bjerregaard, Morten Frödin et al. · Human Mutation · 2005 · 57 citations