Sophie Jung

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

Laura Gámez‐Díaz, Dietrich August, Polina Stepensky et al. · Journal of Allergy and Clinical Immunology · 2016 · 285 citations · Full text

Protein Function, Protein Expression, Genetic Disorder +10

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Megana Prasad, Véronique Geoffroy, Serge Vicaire et al. · Journal of Medical Genetics · 2015 · 134 citations · Full text

Epitope determines efficacy of therapeutic anti-Tau antibodies in a functional assay with human Alzheimer Tau

Jean‐Philippe Courade, Rachel Angers, Georges Mairet‐Coello et al. · Acta Neuropathologica · 2018 · 133 citations · Full text

Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice

Delphine Bouis, Peggy Kirstetter, Florent Arbogast et al. · Journal of Allergy and Clinical Immunology · 2018 · 97 citations · Full text

Primary Immunodeficiency, Immunogenetics, Allergy +10

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

Muriel de La Dure‐Molla, Benjamin Fournier, María Cristina Manzanares‐Céspedes et al. · American Journal of Medical Genetics Part A · 2019 · 79 citations · Full text

Genetics, Genetic Epidemiology, Diagnosis +19