| DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups M Spólnicka, E Pośpiech, B Pepłońska, R Zbieć-Piekarska, Ż Makowska, ... International journal of legal medicine 132, 1-11, 2018 | 78 | 2018 |
| Rapid whole-exome sequencing as a diagnostic tool in a neonatal/pediatric intensive care unit R Śmigiel, M Biela, K Szmyd, M Błoch, E Szmida, P Skiba, A Walczak, ... Journal of Clinical Medicine 9 (7), 2220, 2020 | 51 | 2020 |
| NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with Leigh-like encephalomyopathy D Piekutowska-Abramczuk, Z Assouline, L Mataković, RG Feichtinger, ... The American Journal of Human Genetics 102 (3), 460-467, 2018 | 51 | 2018 |
| Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features A Kutkowska-Kaźmierczak, M Rydzanicz, A Chlebowski, ... Journal of medical genetics 55 (6), 408-414, 2018 | 48 | 2018 |
| Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy GT Truszkowska, ZT Bilińska, A Muchowicz, A Pollak, A Biernacka, ... Scientific reports 7 (1), 3362, 2017 | 40 | 2017 |
| Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: clinical report and literature review K Szczałuba, A Biernacka, K Szymańska, P Gasperowicz, J Kosińska, ... European journal of medical genetics 61 (3), 157-160, 2018 | 36 | 2018 |
| Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and … R Smigiel, DL Sherman, M Rydzanicz, A Walczak, D Mikolajkow, ... Human molecular genetics 27 (21), 3669-3674, 2018 | 33 | 2018 |
| Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation J Pilch, AA Koppolu, A Walczak, VA Murcia Pienkowski, A Biernacka, ... Clinical genetics 94 (3-4), 381-385, 2018 | 30 | 2018 |
| Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome R Smigiel, A Biernacka, M Biela, V Murcia-Pienkowski, E Szmida, ... Journal of Human Genetics 63 (4), 517-520, 2018 | 22 | 2018 |
| Multiple differentially methylated regions specific to keratoconus explain known keratoconus linkage loci M Kabza, JA Karolak, M Rydzanicz, M Udziela, P Gasperowicz, R Ploski, ... Investigative Ophthalmology & Visual Science 60 (5), 1501-1509, 2019 | 19 | 2019 |
| 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 |
| A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy M Rydzanicz, P Zwoliński, P Gasperowicz, A Pollak, G Kostrzewa, ... American Journal of Medical Genetics Part A 185 (11), 3384-3389, 2021 | 16 | 2021 |
| DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease M Spólnicka, R Zbieć-Piekarska, M Karp, MM Machnicki, P Własiuk, ... Forensic science international. Genetics 34, e15-e17, 2018 | 15 | 2018 |
| Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity M Rydzanicz, TJ Stradomska, E Jurkiewicz, E Jamroz, P Gasperowicz, ... Journal of applied genetics 58, 475-480, 2017 | 13 | 2017 |
| Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy A Materna-Kiryluk, A Pollak, K Gawalski, A Szczawinska-Poplonyk, ... Human Molecular Genetics 30 (3-4), 226-233, 2021 | 10 | 2021 |
| The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene M Jędrzejowska, E Dębek, B Kowalczyk, P Halat, A Kostera‐Pruszczyk, ... Muscle & Nerve 59 (1), 129-133, 2019 | 10 | 2019 |
| Co‐occurrence of Jalili syndrome and muscular overgrowth A Wawrocka, J Walczak‐Sztulpa, M Badura‐Stronka, M Owecki, ... American Journal of Medical Genetics Part A 173 (8), 2280-2283, 2017 | 10 | 2017 |
| A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case … AA Koppolu, A Madej-Pilarczyk, M Rydzanicz, J Kosińska, P Gasperowicz, ... Folia Neuropathologica 55 (3), 214-220, 2017 | 8 | 2017 |
| A cautionary note on using binary calls for analysis of DNA methylation A Prochenka, P Pokarowski, P Gasperowicz, J Kosińska, P Stawiński, ... Bioinformatics 31 (9), 1519-1520, 2015 | 6 | 2015 |
| Allogenic adipose-derived stem cells in diabetic foot ulcer treatment: clinical effectiveness, safety, survival in the wound site, and proteomic impact B Mrozikiewicz-Rakowska, I Szabłowska-Gadomska, D Cysewski, ... International Journal of Molecular Sciences 24 (2), 1472, 2023 | 5 | 2023 |
Agnieszka PollakAdiunkt, Warszawski Uniwersytet MedycznyZweryfikowany adres z wum.edu.pl
