| De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed J Stanik, P Dusatkova, O Cinek, L Valentinova, M Huckova, M Skopkova, ... Diabetologia 57, 480-484, 2014 | 136 | 2014 |
| Novel insights into genetics and clinics of the HNF1A-MODY T Valkovicova, M Skopkova, J Stanik, D Gasperikova Endocrine regulations 53 (2), 110-134, 2019 | 88 | 2019 |
| EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO M Skopkova, F Hennig, BS Shin, CE Turner, D Stanikova, K Brennerova, ... Human mutation 38 (4), 409-425, 2017 | 72 | 2017 |
| Adipokine protein expression pattern in growth hormone deficiency predisposes to the increased fat cell size and the whole body metabolic derangements J Ukropec, A Penesová, M Škopková, M Pura, M Vlcek, Z Rádiková, ... The Journal of Clinical Endocrinology & Metabolism 93 (6), 2255-2262, 2008 | 60 | 2008 |
| Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome J Stanik, M Skopkova, D Stanikova, K Brennerova, L Barak, L Ticha, ... Physiol Res 67 (2), 331-337, 2018 | 30 | 2018 |
| Melanocortin-4 receptor gene mutations in obese Slovak children D Stanikova, M Surova, L Ticha, M Petrasova, D Virgova, M Huckova, ... Physiological Research 64 (6), 883, 2015 | 21 | 2015 |
| Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation J Stanik, M Skopkova, K Brennerova, D Danis, M Rosolankova, ... Diabetes Research and Clinical Practice 126, 144-150, 2017 | 19 | 2017 |
| Mutations in are important genetic causes of Leigh syndrome in Slovak patients D Danis, K Brennerova, M Skopkova, T Kurdiova, J Ukropec, J Stanik, ... Endocrine regulations 52 (2), 110-118, 2018 | 18 | 2018 |
| DNM1 encephalopathy− atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene M Kolnikova, M Skopkova, D Ilencikova, T Foltan, J Payerova, D Danis, ... Seizure 56, 31-33, 2018 | 18 | 2018 |
| Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa M Skopkova, M Ciljakova, Z Havlicekova, J Vojtkova, L Valentinova, ... European journal of medical genetics 59 (9), 429-435, 2016 | 18 | 2016 |
| Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene M Kolnikova, P Jungova, M Skopkova, T Foltan, D Gasperikova, ... Journal of Molecular Neuroscience 67, 559-563, 2019 | 15 | 2019 |
| Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report L Varga, D Danis, M Skopkova, I Masindova, Z Slobodova, L Demesova, ... BMC medical genetics 20, 1-10, 2019 | 13 | 2019 |
| Age of obesity onset in MC4R mutation carriers. D Stanikova, M Surova, M Buzga, M Skopkova, L Ticha, M Petrasova, ... Endocrine regulations 49 (3), 137-140, 2015 | 10 | 2015 |
| Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents D Stanikova, M Buzga, P Krumpolec, M Skopkova, M Surova, ... PloS one 12 (5), e0177222, 2017 | 9 | 2017 |
| Variant c. 2158-2A> G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population-evidence for a new … D Safka Brozkova, L Varga, A Uhrova Meszarosova, Z Slobodova, ... Orphanet Journal of Rare Diseases 15, 1-11, 2020 | 8 | 2020 |
| Saposin B–Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis P Madaan, P Jauhari, B Chakrabarty, A Kumar, S Gulati Neuropediatrics 50 (05), 318-321, 2019 | 8 | 2019 |
| Mitochondria and mitochondrial disorders: An overview update V Rambani, D Hromnikova, D Gasperikova, M Skopkova Endocrine Regulations 56 (3), 232-248, 2022 | 7 | 2022 |
| Sulfonylurea vs insulin therapy in individuals with sulfonylurea‐sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor … J Stanik, A Dankovcikova, L Barak, M Skopkova, M Palko, J Divinec, ... Diabetic Medicine 35 (3), 386-391, 2018 | 7 | 2018 |
| Hum Mutat. 2017 April; 38 (4): 409-425 M Skopkova, F Hennig, BS Shin, CE Turner, D Stanikova, K Brennerova, ... EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability …, 0 | 6 | |
| ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability M Skopkova, H Stufkova, V Rambani, V Stranecky, K Brennerova, ... Orphanet Journal of Rare Diseases 18 (1), 92, 2023 | 4 | 2023 |
