Robert Maiwald

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 364 citations

Mendelian Disorder, Treacher Collins, Rna Polymerases +9

Next-generation sequencing in X-linked intellectual disability

Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl et al. · European Journal of Human Genetics · 2015 · 149 citations · Full text

Sequencing, Mendelian Disorder, Genetic Disorder +7

Reduced folate transport to the CNS in female Rett patients

V. Ramaekers, Steen Ingemann Hansen, Jan Holm et al. · Neurology · 2003 · 95 citations

Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis

Octavian Henegariu, P.N. Hirschmann, K. Kilian et al. · Andrologia · 2009 · 93 citations

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

Daniela Tavian, Sara Missaglia, Chiara Redaelli et al. · Human Molecular Genetics · 2012 · 50 citations · Full text

Lipase Activity, Genetics, Molecular Genetics +19