| Noonan syndrome in diverse populations P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ... American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017 | 91 | 2017 |
| Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome S Lohan, M Spielmann, SC Doelken, R Flöttmann, F Muhammad, ... Clinical Genetics 86 (4), 318-325, 2014 | 88 | 2014 |
| 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 | 56 | 2018 |
| Genetics and genomics in Peru: Clinical and research perspective H Guio, JA Poterico, KS Levano, M Cornejo‐Olivas, P Mazzetti, ... Molecular Genetics & Genomic Medicine 6 (6), 873, 2018 | 48 | 2018 |
| A novel ASPH variant extends the phenotype of Shawaf‐Traboulsi syndrome HH Abarca Barriga, N Caballero, M Trubnykova, MC Castro‐Mujica, ... American Journal of Medical Genetics Part A 176 (11), 2494-2500, 2018 | 22 | 2018 |
| Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR R Aquino, A Protzel, J Rivera, H Abarca, M Dueñas, C Nestarez, ... Revista Peruana de Medicina Experimental y Salud Pública 34, 62-69, 2017 | 16 | 2017 |
| 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 | 15 | 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 | 12 | 2014 |
| Atlas de dismorfología pediátrica E Klein, B Gallardo, M Chávez, H Abarca-Barriga Lima: Fondo Editorial del INSN, 2012 | 12 | 2012 |
| 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 | 11 | 2021 |
| Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases X Montenegro‐Garreaud, AW Hansen, MM Khayat, V Chander, ... Human mutation 41 (12), 2094-2104, 2020 | 10 | 2020 |
| Knowledge level of medical students and physicians about rare diseases in Lima, Peru A Flores, S Burgos, H Abarca-Barriga Intractable & Rare Diseases Research 11 (4), 180-188, 2022 | 9 | 2022 |
| 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 target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB ML Guevara‐Fujita, F Huaman‐Dianderas, D Obispo, R Sánchez, ... Molecular Genetics & Genomic Medicine 9 (9), e1759, 2021 | 6 | 2021 |
| Avances genómicos de la última década y su influencia en el enfoque diagnóstico de la discapacidad intelectual. HH Abarca Barriga Revista de Neuro-Psiquiatría 84 (1), 33-50, 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 |
| Atlas de dismorfologia pediatrica EK De Zighelboim, BG Jugo, MC Pastor, HHA Barriga Lima Perú. Fondo Editorial INSN, 2012 | 6 | 2012 |
| 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 |
| Bases genéticas de la hipertensión arterial pulmonar MC Castro-Mujica, H Abarca-Barriga Revista de la Facultad de Medicina Humana 20 (4), 670-681, 2020 | 5 | 2020 |
