Katja Eggermann

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

Sabine Rudnik‐Schöneborn, Raoul Heller, C Berg et al. · Journal of Medical Genetics · 2008 · 196 citations

Medicine, Genetics, Molecular Genetics +17

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Katharina Vill, Oliver Schwartz, Astrid Blaschek et al. · Orphanet Journal of Rare Diseases · 2021 · 163 citations · Full text

Medicine, Neurology, Pediatrics +17

Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy

Thomas Eggermann, H Wollmann, Ruprecht Kuner et al. · Human Genetics · 1997 · 157 citations

Life Sciences, Genetics, Molecular Medicine +12

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases

Katja Eggermann, UA Mau, G Bujdosó et al. · Clinical Genetics · 2002 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Sabine Rudnik‐Schöneborn, D.V. Tolle, Jan Senderek et al. · Clinical Genetics · 2015 · 90 citations

Medicine, Genetics, Neurology +17