Anna Le Fevre

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>FOXP1</i> mutations cause intellectual disability and a recognizable phenotype

Anna Le Fevre, Sharelle Taylor, Neva H. Malek et al. · American Journal of Medical Genetics Part A · 2013 · 102 citations

Life Sciences, Genetics, Molecular Genetics +17

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

Anna Le Fevre, Júlia Baptista, Sian Ellard et al. · European Journal of Medical Genetics · 2019 · 18 citations

Life Sciences, Genetics, Molecular Genetics +9

<scp>MOGS‐</scp>CDG: Quantitative analysis of the diagnostic <scp>Glc₃Man</scp> tetrasaccharide and clinical spectrum of six new cases

Merel A. Post, Isis de Wit, Fokje Zijlstra et al. · Journal of Inherited Metabolic Disease · 2023 · 16 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

TRAIL deficiency and PP2A activation with salmeterol ameliorates egg allergen-driven eosinophilic esophagitis

Leon A. Sokulsky, Adam Collison, S. L. Nightingale et al. · American Journal of Physiology-Gastrointestinal and Liver Physiology · 2016 · 14 citations

Life Sciences, Immunology, Pathobiology +17