Daniela Choukair

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Joel Hughes, Ebba Alkhunaizi, Paul Kruszka et al. · The American Journal of Human Genetics · 2019 · 46 citations · Full text

Urology, Mendelian Disorder, Isolated Sex Reversal +10

Inhibition of IGF-I–related intracellular signaling pathways by proinflammatory cytokines in growth plate chondrocytes

Daniela Choukair, Ulrike Hügel, Anja Sander et al. · Pediatric Research · 2014 · 39 citations · Full text

Inflammation, Bone Morphogenic Protein, Immunology +10

Analysis of the functional muscle–bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography

Daniela Choukair, Carolin Kneppo, Reinhard Feneberg et al. · Journal of Inherited Metabolic Disease · 2016 · 37 citations

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · Nature Genetics · 2024 · 34 citations · Full text

Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua N. Gong et al. · Science Advances · 2021 · 32 citations · Full text