Flora Bréhéret

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Thomas Besnard, Natacha Sloboda, Alice Goldenberg et al. · Genetics in Medicine · 2019 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana et al. · Orphanet Journal of Rare Diseases · 2015 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Sébastien Küry, Jinwei Zhang, Thomas Besnard et al. · Genetics in Medicine · 2022 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14