Concepedia

Mert Karakaya

MK

Statistics

Publications

19

Citations

547

H-Index

16

Active since

2015

Affiliations

University of Cologne(Current)

University Hospital Cologne

University College London

St George's, University of London

Mashhad University of Medical Sciences

Mert Karakaya is an author at University of Cologne specializing in neurogenetic disorders, molecular genetics, and neurogenetics.

ORCID

Publications per year

2015–2023

19

Publications

19

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 · 89 citations · Full text

, , +14

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 · 55 citations · Full text

, , +17

The genomic and clinical landscape of fetal akinesia

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

, , +9

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

, , +17

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Haicui Wang, Claire Salter, Osama Refai et al. · Brain · 2017 · 35 citations · Full text

, , +17

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