Mert Karakaya

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Shereen G. Ghosh, Kerstin Becker, He Huang et al. · The American Journal of Human Genetics · 2018 · 85 citations · Full text

Biallelic Mutations, Genetic Disorder, Encoding Adp-ribosylhydrolase 3 +5

The genomic and clinical landscape of fetal akinesia

Matthias Pergande, Susanne Motameny, Özkan Özdemir et al. · Genetics in Medicine · 2019 · 54 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +5

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

Mert Karakaya, Markus Storbeck, Eike A. Strathmann et al. · Human Mutation · 2018 · 53 citations

Spinal Muscular Atrophies, Genetics, Genetic Epidemiology +18

An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy

Alistair T. Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou et al. · Brain · 2020 · 53 citations · Full text

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Haicui Wang, Claire Salter, Osama Refai et al. · Brain · 2017 · 34 citations · Full text

Developmental Biology, Signal Transduction, High-affinity Choline Transporter +13