Karine POIRIER | Institut Imagine

Presentation

Karine POIRIER

Ophthalmic genetics

Contact :

karine.poirier@institutimagine.org

About

Scientific Publications

Publications

2024

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorde..., Eur J Med Genet
2024

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated w..., J Clin Invest
2023

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorde..., Am J Hum Genet
2019

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet
2019

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability..., Brain
2017

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain
2017

Mutations in the novel gene FOPV are associated with familial autosomal domin..., Liver Int
2017

CSNK2B splice site mutations in patients cause intellectual disability with o..., Hum Mutat
2017

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela..., J Neuropathol Exp Neurol