| Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in Medicine 17 (8), 686, 2015 | 176* | 2015 |
| Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. COC Loveday, C., Tatton-Brown, K., Clarke, M., Westwood, I., Renwick, A ... Human Molecular Genetics 24 (17), 4775–4779, 2015 | 97 | 2015 |
| Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome SM Maas, AC Shaw, H Bikker, HJ Lüdecke, K van der Tuin, ... European journal of medical genetics 58 (5), 279-292, 2015 | 81 | 2015 |
| KAT6B is a tumor suppressor histone H3 lysine 23 acetyltransferase undergoing genomic loss in small cell lung cancer L Simó-Riudalbas, M Pérez-Salvia, F Setien, A Villanueva, C Moutinho, ... Cancer research 75 (18), 3936-3945, 2015 | 80 | 2015 |
| POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome D Lessel, FM Hisama, K Szakszon, B Saha, AB Sanjuanelo, BA Salbert, ... Human mutation 36 (11), 1070-1079, 2015 | 65 | 2015 |
| Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene S Mercimek‐Mahmutoglu, J Ndika, W Kanhai, TB de Villemeur, ... Human mutation 35 (4), 462-469, 2014 | 52 | 2014 |
| De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome K Szakszon, C Salpietro, N Kakar, AC Knegt, É Oláh, B Dallapiccola, ... American journal of medical genetics Part A 161 (4), 884-888, 2013 | 46 | 2013 |
| Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann–Pick C patient K Szakszon, I Szegedi, Á Magyar, É Oláh, M Andrejkovics, P Balla, ... european journal of paediatric neurology 18 (1), 75-78, 2014 | 31 | 2014 |
| New mutations in the ATM gene and clinical data of 25 AT patients I Demuth, V Dutrannoy, W Marques, H Neitzel, D Schindler, PS Dimova, ... neurogenetics 12, 273-282, 2011 | 28 | 2011 |
| Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic … D Lessel, AB Ozel, SE Campbell, A Saadi, MF Arlt, KM McSweeney, ... Human genetics 137, 921-939, 2018 | 27 | 2018 |
| Clinical and genetic characteristics of craniosynostosis in Hungary B Bessenyei, A Nagy, K Szakszon, A Mokánszki, E Balogh, A Ujfalusi, ... American Journal of Medical Genetics Part A 167 (12), 2985-2991, 2015 | 24 | 2015 |
| A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing R Yilmaz, A Beleza‐Meireles, S Price, R Oliveira, C Kubisch, ... American journal of medical genetics Part A 167 (12), 3006-3010, 2015 | 21 | 2015 |
| Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome K Szakszon, E Felszeghy, I Csízy, T Józsa, R Káposzta, E Balogh, É Oláh, ... European journal of medical genetics 55 (2), 109-111, 2012 | 21 | 2012 |
| PRIM1 deficiency causes a distinctive primordial dwarfism syndrome DA Parry, L Tamayo-Orrego, P Carroll, JA Marsh, P Greene, O Murina, ... Genes & development 34 (21-22), 1520-1533, 2020 | 20 | 2020 |
| Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients R Yilmaz, K Szakszon, A Altmann, U Altunoglu, L Senturk, M McGuire, ... American Journal of Medical Genetics Part A 176 (1), 187-193, 2018 | 20 | 2018 |
| Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases O Nagy, K Szakszon, BO Biró, G Mogyorósy, D Nagy, B Nagy, I Balogh, ... Journal of biotechnology 299, 86-95, 2019 | 18 | 2019 |
| The satiety factor apolipoprotein A-IV modulates intestinal epithelial permeability through its interaction with α-catenin: Implications for inflammatory bowel diseases E Orso, C Moehle, A Boettcher, K Szakszon, T Werner, T Langmann, ... Hormone and metabolic research 39 (08), 601-611, 2007 | 16 | 2007 |
| Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation B Bessenyei, M Tihanyi, M Hartwig, K Szakszon, É Oláh American Journal of Medical Genetics Part A 164 (12), 3176-3179, 2014 | 13 | 2014 |
| Blepharophimosis mental retardation syndrome Say‐Barber/Biesecker/Young‐Simpson type–New findings with neuroimaging K Szakszon, E Berényi, A Jakab, B Bessenyei, E Balogh, T Köbling, ... American Journal of Medical Genetics Part A 155 (3), 634-637, 2011 | 13 | 2011 |
| Early introduction of peritoneal dialysis may improve survival in severe sepsis K Szakszon, I Csízy, T Szabó Pediatric emergency care 25 (9), 599-602, 2009 | 12 | 2009 |
