Sanem Yılmaz

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Kaya Bilgüvar, Ali K. Ozturk, Angeliki Louvi et al. · Nature · 2010 · 490 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy

Sarenur Gökben, Hüseyin Önay, Sanem Yılmaz et al. · Acta Neurologica Belgica · 2016 · 38 citations

Neurobiology Of Disease, Neurogenomics, Early-onset Epileptic Encephalopathy +13

A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency

Sanem Yılmaz, Hepsen Mine Serin, Ebru Canda et al. · Metabolic Brain Disease · 2017 · 38 citations

Ocular Disease, Ophthalmology, Medicine +8

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Ken Saida, Reza Maroofian, Toru Sengoku et al. · Genetics in Medicine · 2022 · 34 citations

Neurodegenerative Diseases, Psychiatry, Homozygous Slc18a2 Variants +8

Clinical characteristics and outcome of children with electrical status epilepticus during slow wave sleep

Sanem Yılmaz, Gül Serdaroğlu, Ayfer Akçay et al. · Journal of Pediatric Neurosciences · 2014 · 32 citations · Full text