Julia Schreml

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 225 citations · Full text

Cnv Analysis, Genetics, Genetic Epidemiology +17

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

Bastian Ackermann, Sandra Kröber, Laura Torres‐Benito et al. · Human Molecular Genetics · 2012 · 124 citations

Muscle Function, Synaptic Transmission, Cytoskeleton +19

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong et al. · The American Journal of Human Genetics · 2013 · 118 citations · Full text

Genetic Disorder, Medicine, Genetics +5

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

Chantal A. Mutsaers, Thomas M. Wishart, Douglas J. Lamont et al. · Human Molecular Genetics · 2011 · 98 citations · Full text

Muscle Function, Motor Neuron Disease, Genetics +20

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Julia Schreml, Burak Durmaz, Özgür Çoğulu et al. · Human Genetics · 2013 · 77 citations

Developmental Biology, Mendelian Disorder, “ Link ” +8