| High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency P Gergics, C Smith, H Bando, AAL Jorge, D Rockstroh-Lippold, ... The American Journal of Human Genetics 108 (8), 1526-1539, 2021 | 33 | 2021 |
| Genetics and genomic medicine in Argentina SA Vishnopolska, AG Turjanski, MH Piñero, B Groisman, R Liascovich, ... Molecular Genetics & Genomic Medicine 6 (4), 481, 2018 | 30 | 2018 |
| Germline and somatic mutations in cortical malformations: molecular defects in Argentinean patients with neuronal migration disorders D González-Morón, S Vishnopolska, D Consalvo, N Medina, M Marti, ... PLoS One 12 (9), e0185103, 2017 | 27 | 2017 |
| Gordon Holmes syndrome caused by RNF216 novel mutation in 2 Argentinean siblings CR Calandra, Y Mocarbel, SA Vishnopolska, V Toneguzzo, J Oliveri, ... Movement disorders clinical practice 6 (3), 259, 2019 | 23 | 2019 |
| Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism MI Pérez Millán, SA Vishnopolska, AZ Daly, JP Bustamante, A Seilicovich, ... Molecular Genetics & Genomic Medicine 6 (4), 514-525, 2018 | 22 | 2018 |
| VarQ: a tool for the structural and functional analysis of human protein variants L Radusky, C Modenutti, J Delgado, JP Bustamante, S Vishnopolska, ... Frontiers in Genetics 9, 620, 2018 | 18 | 2018 |
| COVID-19 vaccination responses with different vaccine platforms in patients with inborn errors of immunity L Erra, I Uriarte, A Colado, MV Paolini, G Seminario, JB Fernández, L Tau, ... Journal of Clinical Immunology 43 (2), 271-285, 2023 | 16 | 2023 |
| Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders SA Vishnopolska, MF Mercogliano, MA Camilletti, AH Mortensen, ... The Journal of Clinical Endocrinology & Metabolism 106 (7), 1956-1976, 2021 | 16 | 2021 |
| From pituitary stem cell differentiation to regenerative medicine MA Camilletti, J Martinez Mayer, SA Vishnopolska, MI Perez-Millan Frontiers in Endocrinology 11, 614999, 2021 | 8 | 2021 |
| Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation CR Calandra, G Buda, SA Vishnopolska, J Oliveri, FA Olivieri, MIP Millán, ... Parkinsonism & Related Disorders 73, 52-54, 2020 | 8 | 2020 |
| p. R209H GH1 variant challenges short stature assessment N Sanguineti, D Braslavsky, PA Scaglia, A Keselman, MG Ballerini, ... Growth Hormone & IGF Research 50, 23-26, 2020 | 8 | 2020 |
| Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing R Mendez, S Iqbal, S Vishnopolska, C Martinez, G Dibner, R Aliano, ... Ophthalmic Genetics 42 (3), 291-295, 2021 | 3 | 2021 |
| Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes J Martinez-Mayer, S Vishnopolska, C Perticarari, L Iglesias Garcia, ... The Journal of Clinical Endocrinology & Metabolism, dgae320, 2024 | 2 | 2024 |
| Expandiendo las fronteras de la tecnología genómica en Latinoamérica: medicina de precisión Made in Argentina G Biagioli, SA Vishnopolska, G Buda, J Zaiat, N Pérez, MT Bernardi, ... Universidad de Buenos Aires. http://www. quimicaviva. qb. fcen. uba. ar/v18n1, 2019 | 1 | 2019 |
| VarQ: a tool for the structural analysis of Human Protein Variants L Radusky, C Modenutti, J Delgado, JP Bustamante, S Vishnopolska, ... bioRxiv, 277491, 2018 | 1 | 2018 |
| 7389 Novel Candidate Genes for Congenital Hypopituitarism Revealed by Whole Exome Sequencing JJM Mayer, S Vishnopolska, P Catalina, LI García, M Hackbartt, ... Journal of the Endocrine Society 8 (Supplement_1), bvae163. 1284, 2024 | | 2024 |
| THU159 Identifying Causative Genes For Pituitary Hormone Deficiencies JM Mayer, M Hackbartt, LI Garcia, S Vishnopolska, J Zaiat, C Perticarari, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 1410, 2023 | | 2023 |
| De la bioinformática traslacional a la bioquímica personalizada. Identificación y análisis del efecto fenotípico de variantes genéticas aplicado a la deficiencia de hormonas … SA Vishnopolska Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires Buenos …, 2022 | | 2022 |
| Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified in Pediatric Patients With Congenital Hypopituitarism: From Variant Calling To Variant Testing S Vishnopolska, MF Mercogliano, MA Camilletti, AH Mortensen, ... Journal of the Endocrine Society 5 (Supplement_1), A718-A719, 2021 | | 2021 |
| Identification of FOXA2 and PNPLA6 Among Other Genes, as a Potential Risk for Pituitary Hormone Deficiency MA Camilletti, S Vishnopolska, MF Mercogliano, AH Mortensen, ... Journal of the Endocrine Society 5 (Supplement_1), A540-A541, 2021 | | 2021 |
