Alice Masurel‐Paulet

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 273 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 269 citations

Life Sciences, Genetics, Molecular Genetics +17

NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients

Alice Masurel‐Paulet, Joséphine Poggi-Bach, M. O. Rolland et al. · Journal of Inherited Metabolic Disease · 2008 · 216 citations

Medicine, Hematology, Immunology +2

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17