| Ring autosomes: some unexpected findings L Caba, C Rusu, V Plăiaşu, G Gug, M Grămescu, C Bujoran, D Ochiană, ... Balkan Journal of Medical Genetics 15 (2), 35-46, 2012 | 25 | 2012 |
| Wolf-Hirschhorn syndrome: clinical and genetic study of 7 new cases, and mini review EC Gavril, AC Luca, AS Curpan, R Popescu, I Resmerita, MC Panzaru, ... Children 8 (9), 751, 2021 | 17 | 2021 |
| Ethnicity-related DMD genotype landscapes in European and non-European countries R Selvatici, R Rossi, F Fortunato, C Trabanelli, Y Sifi, A Margutti, M Neri, ... Neurology: Genetics 7 (1), e536, 2020 | 16 | 2020 |
| Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review I Resmerita, RS Cozma, R Popescu, LM Radulescu, MC Panzaru, ... Genes 11 (12), 1506, 2020 | 15 | 2020 |
| Phenotypic variability in Patau syndrome L Caba¹, C Rusu¹, L Butnariu¹, M Panzaru¹, E Braha¹, M Volosciuc, ... | 14 | 2013 |
| Genetic heterogeneity in corpus callosum agenesis MC Pânzaru, S Popa, A Lupu, C Gavrilovici, VV Lupu, EV Gorduza Frontiers in Genetics 13, 958570, 2022 | 12 | 2022 |
| Epidermolysis bullosa—a different genetic approach in correlation with genetic heterogeneity MC Pânzaru, L Caba, L Florea, EE Braha, EV Gorduza Diagnostics 12 (6), 1325, 2022 | 12 | 2022 |
| Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in … C Antohi, D Haba, L Caba, ML Ciofu, VL Drug, OB Bărboi, BI Dobrovăț, ... Diagnostics 11 (9), 1560, 2021 | 12 | 2021 |
| Genotype-phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature L BUTNARIU, R Cristina, C Lavinia, M Pânzaru, E Braha, M GRAMESCU, ... The Medical-Surgical Journal 117 (3), 714-721, 2013 | 12 | 2013 |
| Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability A Sireteanu, R Popescu, EE Braha, C Bujoran, L Butnariu, L Caba, ... Revista Romana de Medicina de Laborator 22 (2), 157-164, 2014 | 9 | 2014 |
| Benefits of cytogenetic testing in diagnosis of plurimalformative syndromes with congenital heart defects M Pânzaru¹, C Rusu¹, M Voloşciuc, E Braha¹, L Butnariu¹, M Gramescu¹, ... Revista Română de Medicină de Laborator Vol 20 (3/4), 2012 | 8 | 2012 |
| Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling MC Panzaru, A Florea, L Caba, EV Gorduza World Journal of Clinical Cases 11 (12), 2604, 2023 | 7 | 2023 |
| Genomics and Epigenomics in the Molecular Biology of Melanoma—A Prerequisite for Biomarkers Studies DL Zob, I Augustin, L Caba, MC Panzaru, S Popa, AD Popa, L Florea, ... International Journal of Molecular Sciences 24 (1), 716, 2022 | 7 | 2022 |
| ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability M Mazzucato, LVD Pozza, P Facchin, C Angin, F Agius, ... Orphanet Journal of Rare Diseases 18 (1), 267, 2023 | 6 | 2023 |
| Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11. 2 Deletion Syndrome: Genotype–Phenotype Correlation EC Gavril, R Popescu, I Nucă, CG Ciobanu, LI Butnariu, C Rusu, ... Genes 13 (11), 2083, 2022 | 4 | 2022 |
| Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review A Arghir, R Popescu, I Resmerita, M Budisteanu, LI Butnariu, EV Gorduza, ... Genes 12 (6), 811, 2021 | 4 | 2021 |
| Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases. E Braha, V Martiniuc, M Panzaru, L Caba, L Butnariu, M Onofriescu, ... Revista Medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi …, 2013 | 4 | 2013 |
| Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants S Khan, IO Focșa, M Budișteanu, C Stoica, F Nedelea, L Bohîlțea, ... American Journal of Medical Genetics Part A 191 (9), 2376-2391, 2023 | 3 | 2023 |
| Clinical aspects of a rare disease: Bardet Biedl syndrome IO Focsa, M Budisteanu, C Stoica, F Nedelea, C Jurca, L Caba, L Butnariu, ... Modern Medicine 29, 37-42, 2022 | 3 | 2022 |
| A Case of Inherited t (4; 10)(q26; q26. 2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature R Popescu, M Grămescu, L Caba, MC Pânzaru, L Butnariu, E Braha, ... Genes 12 (12), 1957, 2021 | 3 | 2021 |
