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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies D Safka Brozkova, T Deconinck, L Beth Griffin, A Ferbert, J Haberlova, ... Brain 138 (8), 2161-2172, 2015 | 105 | 2015 |
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Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2 P Lassuthova, AP Rebelo, G Ravenscroft, PJ Lamont, MR Davis, ... The American Journal of Human Genetics 102 (3), 505-514, 2018 | 83 | 2018 |
High frequency of SH3TC2 mutations in Czech HMSN I patients P Laššuthová, R Mazanec, P Vondráček, D Šišková, J Haberlova, ... Clinical genetics 80 (4), 334-345, 2011 | 64 | 2011 |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ... Brain 143 (7), 2106-2118, 2020 | 63 | 2020 |
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ... Genetics in Medicine 21 (4), 837-849, 2019 | 62 | 2019 |
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom P Laššuthová, DŠ Brožková, M Krůtová, J Neupauerova, J Haberlova, ... Neurogenetics 16, 43-54, 2015 | 54 | 2015 |
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis P Laššuthová, D Šafka Brožková, M Krůtová, J Neupauerová, J Haberlová, ... Orphanet journal of rare diseases 11, 1-10, 2016 | 53 | 2016 |
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ... The American Journal of Human Genetics 108 (6), 965-982, 2021 | 45 | 2021 |
Monitoring of methylation changes in 9p21 region in patients with myelodysplastic syndromes and acute myeloid leukemia H Cechova, L Lassuthova, Petra, Novakova, M Belickova, ... Neoplasma 59 (2), 168-174, 2012 | 38 | 2012 |
Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations P Sancho, L Bartesaghi, O Miossec, F Garcia-Garcia, L Ramirez-Jimenez, ... Human Molecular Genetics 28 (10), 1629-1644, 2019 | 36 | 2019 |
Genetic pain loss disorders A Lischka, P Lassuthova, A Çakar, CJ Record, J Van Lent, J Baets, ... Nature Reviews Disease Primers 8 (1), 41, 2022 | 34 | 2022 |
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life D Staněk, P Laššuthová, K Štěrbová, M Vlčková, J Neupauerová, ... Orphanet Journal of Rare Diseases 13, 1-8, 2018 | 32 | 2018 |
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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME J Senderek, P Lassuthova, D Kabzińska, L Abreu, J Baets, C Beetz, ... Neurology 95 (24), e3163-e3179, 2020 | 28 | 2020 |
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population SP Marková, DŠ Brožková, P Laššuthová, A Mészárosová, M Krůtová, ... Genetic Testing and Molecular Biomarkers 22 (2), 127-134, 2018 | 28 | 2018 |
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children–frequent and underestimated cause of disability among Czech Gypsies P Lassuthova, D Šišková, J Haberlová, I Sakmaryová, A Filouš, P Seeman Orphanet Journal of Rare Diseases 9, 1-10, 2014 | 26 | 2014 |