Miel Theunis

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Lindsey D. Goodman, Heidi Cope, Zelha Nil et al. · The American Journal of Human Genetics · 2021 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Mio Aerden, Anne‐Sophie Denommé‐Pichon, Dominique Bonneau et al. · European Journal of Human Genetics · 2023 · 21 citations · Full text

Medicine, Genetics, Pediatrics +14

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

Liselot van der Laan, Kathleen Rooney, Mariëlle Alders et al. · International Journal of Molecular Sciences · 2022 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive Recommendations for the Clinical Management of Pregnant Women With Noninvasive Prenatal Test Results Suspicious of a Maternal Malignancy

Catharina J. Heesterbeek, Liesbeth Lenaerts, Vivianne C. G. Tjan‐Heijnen et al. · JCO Oncology Practice · 2024 · 15 citations · Full text

Medicine, Maternal Health, Obstetrics +15