| Williams–Beuren syndrome in diverse populations P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ... American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018 | 80 | 2018 |
| Factores de riesgo en las enfermedades genéticas HH Abarca Barriga, M Chávez Pastor, M Trubnykova, L Serna-Infantes, ... Acta Médica Peruana 35 (1), 43-50, 2018 | 61 | 2018 |
| A novel ASPH variant extends the phenotype of ShawafTraboulsi syndrome HH Abarca Barriga, N Caballero, M Trubnykova, MC CastroMujica, ... American Journal of Medical Genetics Part A 176 (11), 2494-2500, 2018 | 23 | 2018 |
| Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3 J La Serna-Infantes, MC Pastor, M Trubnykova, FC Velásquez, ... European Journal of Medical Genetics 61 (7), 388-392, 2018 | 17 | 2018 |
| Ocular pterygium—Digital keloid dysplasia H Abarca, AEC Mellgren, M Trubnykova, OH Haugen, G Høvding, ... American Journal of Medical Genetics Part A 164 (11), 2901-2907, 2014 | 13 | 2014 |
| Tratamiento de las enfermedades genéticas: presente y futuro HH Abarca Barriga, M Trubnykova, MC Castro Mujica Revista de la Facultad de Medicina Humana 21 (2), 399-416, 2021 | 12 | 2021 |
| Genetic association meta-analysis: a new classification to assess ethnicity using the association of MCP-1-2518 polymorphism and tuberculosis susceptibility as a model T Vásquez-Loarte, M Trubnykova, H Guio BMC genetics 16, 1-11, 2015 | 12 | 2015 |
| Phenotypic expansion in KIF1Arelated dominant disorders: A description of novel variants and review of published cases X MontenegroGarreaud, AW Hansen, MM Khayat, V Chander, ... Human mutation 41 (12), 2094-2104, 2020 | 10 | 2020 |
| A Peruvian child with 18p-/18q+ syndrome and persistent microscopic hematuria JA Poterico, F Vásquez, M Chávez-Pastor, M Trubnykova, F Chavesta, ... Journal of Pediatric Genetics 6 (04), 258-266, 2017 | 9 | 2017 |
| MLPA followed by targetNGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB ML GuevaraFujita, F HuamanDianderas, D Obispo, R Sánchez, ... Molecular Genetics & Genomic Medicine 9 (9), e1759, 2021 | 6 | 2021 |
| Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú HH Abarca Barriga, FM Vásquez Sotomayor, M Trubnykova, ... Acta Médica Peruana 37 (2), 145-155, 2020 | 6 | 2020 |
| Peruvian newborn male with 3p13 deletion syndrome encompassing the FOXP1 gene: review of the literature HH Abarca-Barriga, M Trubnykova, F Chavesta-Velásquez, ... Journal of Pediatric Genetics 9 (04), 270-278, 2020 | 5 | 2020 |
| Síndrome H: primer caso pediátrico reportado en América Latina HH Abarca Barrig, M Trubnykova, V Polar Córdoba, KJ Ramos Diaz, ... Revista chilena de pediatría 87 (6), 494-499, 2016 | 5 | 2016 |
| H syndrome: first reported paediatric case in Latin America AB HH, M Trubnykova, RD KJ Revista Chilena de Pediatria 87 (6), 494-499, 2016 | 5 | 2016 |
| Management of genetic diseases: Present and future H Abarca Barriga, M Trubnykova, M Castro Mujica Revista de la Facultad de Medicina Humana 21 (2), 21, 2021 | 3 | 2021 |
| GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature M Trubnykova, J Bazalar Montoya, L Serna-Infantes, ... Molecular Syndromology 10 (4), 186-194, 2019 | 3 | 2019 |
| Factores de riesgo en las enfermedades genéticas. M Trubnykova, HH Abarca Barriga, MC Pastor, L Serna-Infantes, E Jorge, ... Acta Médica Peruana 35 (1), 2018 | 3 | 2018 |
| Chromosomal microarray analysis in Peruvian children with delayed psychomotor development or intellectual disability HH ABARCA BARRIGA, C Pastor, M Trubnykova, F Vásquez, ... Instituto Nacional de Salud, 2017 | 3 | 2017 |
| Análisis de micromatrices cromosómicas en niños peruanos con retraso del desarrollo psicomotor o discapacidad intelectual HH Abarca-Barriga, MA Chávez Pastor, M Trubnykova, F Vásquez, ... Revista Peruana de Medicina Experimental y Salud Pública 34, 572-574, 2017 | 3 | 2017 |
| A Pellino2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia I Cristea, H Abarca, AE Christensen Mellgren, M Trubnykova, R Mehrasa, ... FEBS letters 597 (9), 1290-1299, 2023 | 2 | 2023 |
