Nadine Hauer

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Nadine Hauer, Bernt Popp, Schoeller Eva et al. · Genetics in Medicine · 2017 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Nadine Hauer, Heinrich Sticht, Sangamitra Boppudi et al. · Scientific Reports · 2017 · 74 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Dov Tiosano, Hagit Baris, Anlu Chen et al. · PLoS Genetics · 2019 · 66 citations · Full text

Medicine, Genetics, Molecular Genetics +17

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Anaïs Begemann, Heinrich Sticht, Amber Begtrup et al. · Genetics in Medicine · 2020 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

Diana Zahnleiter, Nadine Hauer, Kristin Kessler et al. · Human Mutation · 2014 · 25 citations

Life Sciences, Genetics, Molecular Genetics +16