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Diana Ramírez‐Montaño

Observed names: Diana Ramirez Montaño, Diana Ramirez-Montano, Diana Ramirez-Montaño, Diana Ramirez‐Montaño, Diana Ramírez-Montano, Diana Ramírez-Montaño, Ramírez-Montaño, Diana
ORCID: 0000-0001-9424-7554
Observed ORCID: 0000-0001-9424-7554
OpenAlex ID: A5029908299
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
2023 · Erola Pairo-Castineira, Konrad Rawlik, et al. · Nature · 238
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DeSanto-Shinawi Syndrome: First Case in South America
2018 · Sara Vanegas, Diana Ramirez-Montaño, et al. · Molecular Syndromology · 21
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Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
2019 · Diana Ramirez Montaño, Harry Pachajoa · Colombia medica · 19
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Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report.
2019 · Lorena Díaz-Ordoñez, Diana Ramirez-Montaño, et al. · PubMed Central · 17
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Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia
2019 · Estephania Candelo, Léa Cochard, et al. · Intractable & Rare Diseases Research · 14
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Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia
2021 · Harry Pachajoa, Maria Amparo Acosta, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 13
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis
2018 · Sara Vanegas, Luz Fernanda Sua, et al. · The Application of Clinical Genetics · 11
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Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
2023 · Erola Pairo-Castineira, Konrad Rawlik, et al. · Nature · 10
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Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole
2021 · Lorena Díaz-Ordóñez, Diana Ramírez-Montaño, et al. · Pharmacogenomics and Personalized Medicine · 9
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First Case Report of Prader–Willi-Like Syndrome in Colombia
2018 · Estephania Candelo, Max M. Feinstein, et al. · Frontiers in Genetics · 9
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia
2020 · Juliana Lores, Carlos E. Prada, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 8
A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation
2021 · Estephania Candelo, Ana Maria Sanz, et al. · Frontiers in Genetics · 7
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FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report
2019 · Felipe Ruiz-Botero, Diana Ramírez-Montaño, et al. · Archivos Argentinos de Pediatria · 6
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype
2018 · Harry Pachajoa, William Lopez-Quintero, et al. · The Application of Clinical Genetics · 5
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Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report.
2019 · Estephania Candelo, Diana Ramirez-Montaño, et al. · PubMed Central · 4
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Genomic Medicine: Perspective of the Challenges for the Implementation of Preventive, Predictive, and Personalized Medicine in Latin America
2024 · Marcela Perenguez, Diana Ramírez-Montaño, et al. · Current pharmacogenomics and personalized medicine (Online)/Current pharmacogenomics and personalized medicine · 3
Nueva variante en el gen ALG13 responsable del trastorno congénito de la glicosilación tipo Is en un paciente masculino
2021 · Diana Ramirez-Montaño, Estephania Candelo, et al. · Andes pediatrica · 3
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Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and without Catch-up Growth
2020 · Mario Angulo, Diana Ramirez-Montaño, et al. · Journal of Clinical Research in Pediatric Endocrinology · 2
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Fatal Neonatal mTORopathy : Expanding the Phenotypic Spectrum of RRAGC ‐Associated L ong– O lsen– D istelmaier Syndrome
2026 · Juliana Lores, Valentina Botia‐Arciniegas, et al. · Clinical Genetics
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Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America
2026 · Andrés E. Nascimento Osorio, Graciela Barros Acevedo, et al. · Revista de Neurología
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Implementación de un algoritmo clínico y un registro institucional para el seguimiento de pacientes con miocardiopatía amiloide por transtiretina
2026 · Echeverry-Navarrete, Eduardo, Pinilla-Medina, Christian, et al. · Salutem Scientia Spiritus
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Clinical and Molecular Characteristics of Patients with Craniofacial Malformations Due to Syndromic and Non-Syndromic Etiologies
2026 · Daniela Marin-Osorio, Estephania Candelo, et al. · Preprints.org
Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature
2026 · Fernanda Meneses, Carlos Quintero, et al. · International Journal of Molecular Sciences
Clinical outcomes in patients with transthyretin amyloid cardiomyopathy: Experience from the first institutional registry of a single center in Colombia
2026 · Echeverry-Navarrete, Eduardo, Pinilla Medina, Christian Camilo, et al. · Salutem Scientia Spiritus
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New variant in PLP1 gene associated with X-linked spastic paraplegia type 2: First report of a family in Colombia
2026 · Nicolás Laverde-Sudupe, Ángela Lizeth Giraldo-Serna, et al. · Biomédica
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Works count: 33
Citation count: 399
H-index: 9
I10-index: 8
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