Sanna Puusepp

Biallelic <i>CACNA1A</i> mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Karit Reinson, Eve Õiglane‐Shlik, Inga Talvik et al. · American Journal of Medical Genetics Part A · 2016 · 84 citations

Life Sciences, Genetics, Neurology +17

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

Sanna Puusepp, Karit Reinson, Sander Pajusalu et al. · Molecular Genetics and Metabolism Reports · 2018 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R

Melanie Leffler, Sanna Puusepp, Olga Žilina et al. · European Journal of Medical Genetics · 2015 · 46 citations

Life Sciences, Genetics, Molecular Genetics +16

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Sanna Puusepp, Réka Kovács-Nagy, Bader Alhaddad et al. · European Journal of Human Genetics · 2018 · 45 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities

Eve Õiglane‐Shlik, Sanna Puusepp, Inga Talvik et al. · European Journal of Paediatric Neurology · 2014 · 42 citations

Life Sciences, Genetics, Molecular Genetics +15