| Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ... Biological psychiatry 85 (4), 287-297, 2019 | 128 | 2019 |
| Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. C Prattichizzo, M Macca, V Novelli, G Giorgio, A Barra, B Franco, ... Hum Mutat. 29 (10), 1237-46, 2008 | 107 | 2008 |
| Congenital disorders of glycosylation from a neurological perspective J Paprocka, A Jezela-Stanek, A Tylki-Szymańska, S Grunewald Brain Sciences 11 (1), 88, 2021 | 70 | 2021 |
| Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes A Jezela-Stanek, E Ciara, D Piekutowska-Abramczuk, J Trubicka, ... European Journal of Paediatric Neurology 20 (3), 462-473, 2016 | 51 | 2016 |
| Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies R Acuna-Hidalgo, P Deriziotis, M Steehouwer, C Gilissen, SA Graham, ... PLoS genetics 13 (3), e1006683, 2017 | 46 | 2017 |
| Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome M Bauer, U Kölsch, R Krüger, N Unterwalder, K Hameister, FM Kaiser, ... Journal of clinical immunology 35, 168-181, 2015 | 41 | 2015 |
| Lessons learned from 40 novel PIGA patients and a review of the literature A Bayat, A Knaus, M Pendziwiat, A Afenjar, TS Barakat, F Bosch, ... Epilepsia 61 (6), 1142-1155, 2020 | 38 | 2020 |
| DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome E Ciara, MJM Nowaczyk, M Witsch‐Baumgartner, E Malunowicz, ... Clinical genetics 66 (6), 517-524, 2004 | 37 | 2004 |
| Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up A Bogdańska, P Lipiński, P Szymańska-Rożek, A Jezela-Stanek, ... Orphanet Journal of Rare Diseases 16, 1-11, 2021 | 32 | 2021 |
| Genetic causes of syndromic craniosynostoses Jezela-Stanek A, Krajewska-Walasek M Eur J Paediatr Neurol. 17 (3), 221-4, 2013 | 32 | 2013 |
| Epilepsy in mitochondrial diseases—current state of knowledge on aetiology and treatment D Wesół-Kucharska, D Rokicki, A Jezela-Stanek Children 8 (7), 532, 2021 | 30 | 2021 |
| Fucosidosis—Clinical manifestation, long-term outcomes, and genetic profile—Review and case series KM Stepien, E Ciara, A Jezela-Stanek Genes 11 (11), 1383, 2020 | 29 | 2020 |
| Post-translational modifications of circulating alpha-1-antitrypsin protein U Lechowicz, S Rudzinski, A Jezela-Stanek, S Janciauskiene, ... International Journal of Molecular Sciences 21 (23), 9187, 2020 | 27 | 2020 |
| Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies A Jezela‐Stanek, EM Małunowicz, E Ciara, E Popowska, ... Clinical genetics 69 (1), 77-85, 2006 | 25 | 2006 |
| Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature A Jezela-Stanek, E Ciara, EM Malunowicz, L Korniszewski, ... European journal of medical genetics 51 (2), 124-140, 2008 | 24 | 2008 |
| Angelman syndrome revisited J Paprocka, E Jamroz, B Szwed-Bialozyt, A Jezela-Stanek, I Kopyta, ... The Neurologist 13 (5), 305-312, 2007 | 24 | 2007 |
| Four novel RSK2 mutations in females with Coffin–Lowry syndrome D Jurkiewicz, A Jezela-Stanek, E Ciara, D Piekutowska-Abramczuk, ... European Journal of Medical Genetics 53 (5), 268-273, 2010 | 22 | 2010 |
| Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. M Krajewska-Walasek, D Jurkiewicz, D Piekutowska-Abramczuk, ... American Journal of Medical genetics. Part A 170 (6), 1647-1650, 2016 | 20 | 2016 |
| Nonimmune hydrops fetalis—prenatal diagnosis, genetic investigation, outcomes and literature review P Kosinski, P Krajewski, M Wielgos, A Jezela-Stanek Journal of Clinical Medicine 9 (6), 1789, 2020 | 17 | 2020 |
| Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants F Nicita, F Stregapede, A Tessa, MT Bassi, A Jezela-Stanek, G Primiano, ... Journal of Neurology 266, 2657-2664, 2019 | 17 | 2019 |
John S. WayeProfessor of Pathology & Molecular MedicineZweryfikowany adres z hhsc.ca
