| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 312 | 2016 |
| Decreased expression of circulating microRNA-126 in patients with type 2 diabetic nephropathy: A potential blood-based biomarker G Al‑Kafaji, G Al‑Mahroos, HA Al‑Muhtaresh, C Skrypnyk, MA Sabry, ... Experimental and therapeutic medicine 12 (2), 815-822, 2016 | 79 | 2016 |
| Bi-allelic GOT2 mutations cause a treatable malate-aspartate shuttle-related encephalopathy CDM van Karnebeek, RJ Ramos, XY Wen, M Tarailo-Graovac, ... The American Journal of Human Genetics 105 (3), 534-548, 2019 | 58 | 2019 |
| High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case J Kohlhase, M Liebers, J Backe, A Baumann-Müller, M Bembea, ... Journal of medical genetics 40 (11), e127-e127, 2003 | 32 | 2003 |
| Influence of XPC, XPD, XPF, and XPG gene polymorphisms on the risk and the outcome of acute myeloid leukemia in a Romanian population. C Bănescu, M Iancu, PA Trifa, M Dobreanu, GV Moldovan, C Duicu, ... Tumor Biology, 2016 | 28 | 2016 |
| Time‐course effect of high‐glucose‐induced reactive oxygen species on mitochondrial biogenesis and function in human renal mesangial cells G Al‐Kafaji, MA Sabry, C Skrypnyk Cell Biology International 40 (1), 36-48, 2016 | 22 | 2016 |
| Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations G Zhu, O Bartsch, C Skrypnyk, A Rotondo, LA Akhtar, C Harris, ... European journal of human genetics 12 (6), 505-508, 2004 | 21 | 2004 |
| Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14 C Skrypnyk, O Bartsch American Journal of Medical Genetics Part A 124 (4), 397-401, 2004 | 18 | 2004 |
| Current management of Duchenne muscular dystrophy in the Middle East: expert report MA Jumah, MA Muhaizea, AA Rumayyan, AA Saman, AA Shehri, ... Neurodegenerative disease management 9 (3), 123-133, 2019 | 17 | 2019 |
| Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies C Skrypnyk, TO Goecke, F Majewski, O Bartsch American journal of medical genetics 113 (2), 207-212, 2002 | 14 | 2002 |
| Y-chromosome STR haplotype diversity in three ethnically isolated population from North-Western Romania M Bembea, A Patocs, K Kozma, C Jurca, C Skrypnyk Forensic Science International: Genetics 5 (3), e99-e100, 2011 | 11 | 2011 |
| New cohort of patients with CEDNIK syndrome expands the phenotypic and genotypic spectra AY Mah-Som, C Skrypnyk, A Guerin, RH Seroor Jadah, VN Vardhan, ... Neurology: Genetics 7 (1), e553, 2021 | 10 | 2021 |
| Among a panel of polymorphisms in genes related to oxidative stress, CAT-262 C> T, GPX1 Pro198Leu and GSTP1 Ile105Val influence the risk of developing BCR-ABL negative … AP Trifa, C Bănescu, D Dima, AS Bojan, M Tevet, VG Moldovan, ȘC Vesa, ... Hematology 21 (9), 520-525, 2016 | 10 | 2016 |
| Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate … M Scala, SB Wortmann, N Kaya, MD Stellingwerff, A Pistorio, E Glamuzina, ... Human mutation 43 (3), 403-419, 2022 | 9 | 2022 |
| PRADER-WILLI SYNDROME WITH ASSOCIATED TRIPLE-X MOSAICISM. I Pascanu, R Ruff, C Banescu, C Skrypnyk Acta Endocrinologica (1841-0987) 6 (4), 2010 | 6 | 2010 |
| MLPA technique--principles and use in practice C Rusu, A Sireteanu, M Puiu, C Skrypnyk, E Tomescu, K Csep, V Creţ, ... Revista Medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi …, 2007 | 6 | 2007 |
| A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases BM Salvi A, Skrypnyk C, Da Silva N, Urtizberea JA, Bakhiet M, Robert C, Lévy ... Clin Genet 100 (2021 Jul), 84-89, 2021 | 5 | 2021 |
| The Value of FLT3, NPM1 and DNMT3A Gene Mutation Analysis in Acute Myeloid Leukemia Diagnosis C Bănescu, C Skrypnyk Revista Romana de Medicina de Laborator 27 (3), 239-243, 2019 | 5 | 2019 |
| GOT2 deficiency: a novel disorder of the malate aspartate shuttle resulting in serine deficiency R RJJKC, M Tarailo‐Graovac, C Skrypnyk JIMD abstracts SSIEMnumber 1704, 2018 | 5 | 2018 |
| Effects of topiramate on pregnancy outcome in rats R Fadel, C Skrypnyk, AH Salem, MA Hijleh, A Jaradat, R Sequeira مجلة البحرين الطبية 158 (5880), 1-5, 2016 | 2 | 2016 |
Claudia BanescuUniversity of Medicine, Pharmacy, Science and Technology GE Palade Tg Mures RomaniaVerified email at umfst.ro
