Estrella Lizbeth Mellin Sanchez M.D. Assistant Professor Department: Department of Pediatrics Business Phone: (904) 427-7117 Business Email: Lizbeth.Mellin@jax.ufl.edu Appointments and Locations Clinical Profile Specialties Genetics Languages Speaks English and Spanish Show More Publications 2024Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of TexasJournal of Neurodevelopmental Disorders.16(1):52-[DOI] 10.1186/s11689-024-09560-x.[PMID] 39251895.0 citations·PubMed·Publisher's Site2023Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.Research square.():-[DOI] 10.21203/rs.3.rs-3699740/v1.[PMID] 38168160.PubMed·Publisher's Site2022Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric featuresClinical Case Reports.10(5):e05835-[DOI] 10.1002/ccr3.5835.[PMID] 35600042.2 citations·PubMed·Publisher's Site2021Outcomes of patients with cobalamin C deficiency: A single center experienceJIMD Reports.57(1):102-114[DOI] 10.1002/jmd2.12179.[PMID] 33473346.8 citations·PubMed·Publisher's Site2018An Infant Refugee with Anemia and Low Serum Vitamin B12Clinical Chemistry.64(11):1567-1570[DOI] 10.1373/clinchem.2017.283283.[PMID] 30377178.3 citations·PubMed·Publisher's Site2016Associated congenital anomalies in infants with isolated gastroschisis: A single-institutional experienceAmerican Journal of Medical Genetics Part A.170(2):316-321[DOI] 10.1002/ajmg.a.37433.[PMID] .PubMed·Publisher's Site2015Broadening the spectrum of Catania brachydactylous type of acrofacial dysostosesClinical Dysmorphology.24(4):163-165[DOI] 10.1097/mcd.0000000000000089.[PMID] .PubMed·Publisher's Site2015Prevalence and risk factors for gastroschisis in a public hospital from west MéxicoCongenital Anomalies.55(2):73-80[DOI] 10.1111/cga.12087.[PMID] .PubMed·Publisher's Site2013Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndromeClinical Dysmorphology.22(2):81-83[DOI] 10.1097/mcd.0b013e3283602830.[PMID] .PubMed·Publisher's Site Show More Office Information Academic Office Suite 1900841 Prudential DriveJacksonville, FL 32207(904) 427-7117 Lizbeth.Mellin@jax.ufl.edu Executive Assistant Erin Berk(904) 427-7117erin.berk2@jax.ufl.edu Administrator Maureen Palazzolo(904) 244-2126maureen.palazzolo@jax.ufl.edu Show More Clinical Research OPEN ENROLLMENT Biobank for Potential or Known Genetic Diseases OPEN ENROLLMENT Rare Disease Registry A Multicenter, Interventional, Retrospective and Prospective study of Enzyme Replacement Therapy (VPRIV) Clinical Outcomes and Safety in Gaucher Disease Type 1 Patients Previously Treated with Substrate Reduction Therapy OPEN ENROLLMENT Open-label Study of the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, Immunogenicity of Cipaglucosidase Alfa/miglustat in Pediatrics < 18 Yrs with Lopd Pompe Disease Phase 3, Double blind, Randomized, Placebo controlled, Multicenter Study for the Safety, Tolerability, Efficacy of Trappsol® Cyclo™ vs. Placebo in Niemann Pick Disease Education Medical Degree2009 · Michoacan University of Saint Nicholas of Hidalgo, Michoacan, MexicoGenetics Fellowship2015 · Canadian College of Medical Genetics, Toronto, Canada Show More