Lessons learned from additional research analyses of unsolved clinical exome cases
2017 · Genome Medicine · 230 citations
https://doi.org/10.1186/s13073-017-0412-6
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Sandra Mercier
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Sandra Mercier is an academic researcher from Centre National de la Recherche Scientifique. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Neurogenetic and Muscular Disorders Research. The author has an h-index of 34, co-authored 126 publications.
ORCID: 0000-0002-6627-8748Papers by this author
worksDe Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
2017 · The American Journal of Human Genetics · 197 citations
https://doi.org/10.1016/j.ajhg.2017.10.003
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
2020 · Genetics in Medicine · 105 citations
https://doi.org/10.1038/s41436-020-0840-3
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
2020 · Science Advances · 96 citations
https://doi.org/10.1126/sciadv.abc9207
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
2021 · Journal of Medical Genetics · 62 citations
https://doi.org/10.1136/jmedgenet-2020-107595
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
2015 · Orphanet Journal of Rare Diseases · 48 citations
https://doi.org/10.1186/s13023-015-0352-4
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