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, +33

PLoS ONE

Cnv AnalysisGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +15

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

Bastian Ackermann, Sandra Kröber, Laura Torres‐Benito, +10

Human Molecular Genetics

Muscle FunctionSynaptic TransmissionCytoskeletonCellular NeurobiologyNeuromuscular Junction +17

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, +31

The American Journal of Human Genetics

Genetic DisorderMedicineGeneticsPathologyDisease Spectrum +3

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

Chantal A. Mutsaers, Thomas M. Wishart, Douglas J. Lamont, +8

Human Molecular Genetics

Muscle FunctionMotor Neuron DiseaseGeneticsMolecular BiologyPathology +18

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

Julia Schreml, Burak Durmaz, Özgür Çoğulu, +10

Human Genetics

Developmental BiologyMendelian Disorder“ Link ”Hypofunctional Xylt1 MutationGenetic Disorder +6

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

Julia Schreml, Mario Paterno, Lutz Garbes, +9

European Journal of Human Genetics

Knockout MouseAutoimmune DiseaseHdaci Jnj-26481585Severe Sma MiceLiver Physiology +4

Modulation of human endogenous retrovirus (HERV) transcription during persistent and de novo HIV-1 infection

Michelle Vincendeau, Ingmar Göttesdorfer, Julia Schreml, +9

Retrovirology

VPA response in SMA is suppressed by the fatty acid translocase CD36

Lutz Garbes, Ludwig Heesen, Irmgard Hölker, +10

Human Molecular Genetics

Epigenetic ChangeMolecular BiologyVpa ResponseEpigeneticsMolecular Signaling +14

Multiple Symmetric Lipomatosis: New Classification System Based on the Largest German Patient Cohort

Daniel Schiltz, Alexandra Anker, Christine Ortner, +7

Plastic & Reconstructive Surgery Global Open

Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue–Derived Stem Cells

Lukas Prantl, Julia Schreml, Sebastian Gehmert, +7

Plastic & Reconstructive Surgery