Varoona Bizaoui

Speech and language deficits are central to SETBP1 haploinsufficiency disorder

Angela Morgan, Ruth Braden, Maggie M. K. Wong et al. · European Journal of Human Genetics · 2021 · 59 citations · Full text

Education, Neuroscience, Speech-language Pathology +14

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor et al. · Genetics in Medicine · 2022 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson, François Lecoquierre, Gaël Nicolas et al. · European Journal of Human Genetics · 2023 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta

Yasuhisa Ohata, Shinji Takeyari, Yoshifumi Nakano et al. · Osteoporosis International · 2019 · 23 citations · Full text

Medicine, Genetics, Molecular Genetics +17

RASopathies are associated with a distinct personality profile

Varoona Bizaoui, Jessica Gage, Rita Brar et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2018 · 14 citations · Full text

Life Sciences, Genetics, Psychology +17