Sabine Lüttgen

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Karim Kouz, Stephanie Spranger, Diana Mitter et al. · Genetics in Medicine · 2016 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 102 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

Denise Horn, M. Chyrek, Saskia Kleier et al. · European Journal of Human Genetics · 2005 · 61 citations

Life Sciences, Genetics, Cardiovascular Genetics +5

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Eva Klopocki, Christian M. Kähler, Nicola Foulds et al. · European Journal of Human Genetics · 2012 · 55 citations · Full text

Medicine, Pathology, Genodermatoses +7