Harvy M. Velasco
Medellin, ANT, Colombia
Last Updated: 09/26/2026
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Found 18 publications
Implementation of Polygenic Risk Stratification and Genomic Counseling in Colombia: An Embedded Mixed-Methods Study.
Journal: Journal of personalized medicine
Published: May 28, 2025
Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.
Journal: Cancer epidemiology
Published: March 13, 2025
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.
Journal: European journal of human genetics : EJHG
Published: November 20, 2023
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: October 26, 2020
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
Journal: American journal of medical genetics. Part A
Published: February 24, 2020
Male patient 46,XX SRY-negative and unambiguous genitalia: A case report
Journal: Biomedica : revista del Instituto Nacional de Salud
Published: August 31, 2018
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.
Journal: The application of clinical genetics
Published: May 08, 2018
Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA).
Journal: Frontiers in genetics
Published: December 21, 2017
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.
Journal: The application of clinical genetics
Published: November 22, 2017
Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.
Journal: Journal of child neurology
Published: October 14, 2016
Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.
Journal: Colombia medica (Cali, Colombia)
Published: February 06, 2016
Clinical community genetics: exploring genetic disorders in Boyacá, Colombia
Journal: Revista de salud publica (Bogota, Colombia)
Published: January 19, 2016
Last Updated: 09/26/2026