| Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next B Wirth, M Karakaya, MJ Kye, N Mendoza-Ferreira Annual review of genomics and human genetics 21, 231-261, 2020 | 175 | 2020 |
| Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ... The American Journal of Human Genetics 103 (3), 431-439, 2018 | 73 | 2018 |
| The genomic and clinical landscape of fetal akinesia M Pergande, S Motameny, Ö Özdemir, M Kreutzer, H Wang, ... Genetics in Medicine 22 (3), 511-523, 2020 | 46 | 2020 |
| Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies M Karakaya, M Storbeck, EA Strathmann, A Delle Vedove, I Hölker, ... Human mutation 39 (9), 1284-1298, 2018 | 45 | 2018 |
| Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy M Karakaya, C Paketci, J Altmueller, H Thiele, I Hoelker, U Yis, B Wirth American Journal of Medical Genetics Part A 179 (8), 1580-1584, 2019 | 39 | 2019 |
| A novel missense variant in the AGRN gene; congenital myasthenic syndrome presenting with head drop M Karakaya, O Ceyhan-Birsoy, AH Beggs, H Topaloglu Journal of clinical neuromuscular disease 18 (3), 147-151, 2017 | 30* | 2017 |
| Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization H Wang, CG Salter, O Refai, H Hardy, KES Barwick, U Akpulat, ... Brain 140 (11), 2838-2850, 2017 | 29 | 2017 |
| Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function N Mendoza-Ferreira, M Coutelier, E Janzen, S Hosseinibarkooie, H Löhr, ... Neurology: Genetics 4 (1), e209, 2018 | 26 | 2018 |
| An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy AT Pagnamenta, R Kaiyrzhanov, Y Zou, SI Da'as, R Maroofian, ... Brain 144 (2), 584-600, 2021 | 23 | 2021 |
| Novel mutations in the nonselective sodium leak channel (NALCN) lead to distal arthrogryposis with increased muscle tone M Karakaya, R Heller, V Kunde, KP Zimmer, CM Chao, P Nürnberg, ... Neuropediatrics, 273-277, 2016 | 19 | 2016 |
| Report of a novel ATP7A mutation causing distal motor neuropathy F Gualandi, E Sette, F Fortunato, S Bigoni, D De Grandis, C Scotton, ... Neuromuscular Disorders 29 (10), 776-785, 2019 | 18 | 2019 |
| Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis W Fazeli, M Karakaya, P Herkenrath, A Vierzig, J Dötsch, ... Molecular and cellular pediatrics 3, 1-6, 2016 | 16 | 2016 |
| Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation M Karakaya, N Mazaheri, I Polat, D Bharucha-Goebel, S Donkervoort, ... Brain 140 (10), e65-e65, 2017 | 15 | 2017 |
| Whole exome sequencing reveals DYSF, FKTN, and ISPD mutations in congenital muscular dystrophy without brain or eye involvement O Ceyhan-Birsoy, B Talim, LC Swanson, M Karakaya, MA Graff, ... Journal of neuromuscular diseases 2 (1), 87-92, 2015 | 15 | 2015 |
| PRUNE1: a disease-causing gene for secondary microcephaly M Karakaya, S Yilmaz, M Storbeck, I Hoelker, R Heller, G Serdaroglu, ... Brain 140 (10), e61-e61, 2017 | 14 | 2017 |
| Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia S Alawbathani, A Kawalia, M Karakaya, J Altmüller, P Nürnberg, S Cirak Molecular Case Studies 4 (1), a002139, 2018 | 13 | 2018 |
| De novo and inherited variants in GBF1 are associated with axonal neuropathy caused by Golgi fragmentation N Mendoza-Ferreira, M Karakaya, N Cengiz, D Beijer, KW Brigatti, ... The American Journal of Human Genetics 107 (4), 763-777, 2020 | 12 | 2020 |
| De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy N Keller, C Paketci, P Edem, H Thiele, U Yis, B Wirth, M Karakaya European journal of medical genetics 64 (2), 104134, 2021 | 10 | 2021 |
| Novel mutations in SLC6A5 with benign course in hyperekplexia HS Dafsari, A Kawalia, R Sprute, M Karakaya, A Malenica, P Herkenrath, ... Molecular Case Studies 5 (6), a004465, 2019 | 10 | 2019 |
| VPS13D: one family, same mutations, two phenotypes JN Petry‐Schmelzer, N Keller, M Karakaya, B Wirth, GR Fink, ... Movement disorders clinical practice 8 (5), 803, 2021 | 9 | 2021 |
