Perrine Brunelle

<i>FAM46A</i> mutations are responsible for autosomal recessive osteogenesis imperfecta

Mathilde Doyard, Séverine Bacrot, Céline Huber et al. · Journal of Medical Genetics · 2018 · 74 citations

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta

Johanne Dubail, Perrine Brunelle, Geneviève Baujat et al. · Journal of Bone and Mineral Research · 2020 · 55 citations · Full text

Bone Disease, Sclerostin, Developmental Biology +15

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Theodore G. Drivas, Dong Li, Divya Nair et al. · European Journal of Human Genetics · 2020 · 49 citations · Full text

Clinical Disorders, Mendelian Disorder, Chd3 Patients +9

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

Xiangbin Jia, S. Zhang, Senwei Tan et al. · Science Advances · 2022 · 49 citations · Full text

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