De novo mutations of <i>KIAA2022</i> in females cause intellectual disability and intractable epilepsy
2016 · Journal of Medical Genetics · 63 citations
https://doi.org/10.1136/jmedgenet-2016-103909
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Juliette Piard
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Juliette Piard is an academic researcher from Délégation Paris 5. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities. The author has an h-index of 25, co-authored 87 publications.
ORCID: 0000-0001-5244-5325Papers by this author
worksPhenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
2021 · Journal of Medical Genetics · 62 citations
https://doi.org/10.1136/jmedgenet-2020-107595
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
2018 · Genetics in Medicine · 61 citations
https://doi.org/10.1038/s41436-018-0339-3
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
2017 · Brain · 59 citations
https://doi.org/10.1093/brain/awx377
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
2020 · Genetics in Medicine · 51 citations
https://doi.org/10.1038/s41436-020-0898-y
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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