Luis Umana Franco, M.D. Titles and Appointments Associate Professor Schools Medical School Departments Pediatrics You have reached the Academic Profile. For more information on the doctor and patient care, please visit the clinical profile. Biography Luis Umaña received his medical degree in 2003 from Universidad Colegio Mayor de Nuestra Señora del Rosario in Bogotá, Colombia. He worked as a general physician and as auxiliary Professor of Physiology at Universidad Autónoma de Bucaramanga in Colombia. In 2007, he moved to New York to pursue residency training in pediatrics, which he completed at St. Barnabas Hospital. After completing pediatric training, he moved to Houston where he completed his Clinical Genetics Residency in 2012, and a Medical Biochemical Genetics Fellowship in 2013, both at Baylor College of Medicine. He is Board certified in General Pediatrics by the American Board of Pediatrics (ABP), and in Clinical Genetics and in Medical Biochemical Genetics by the American Board of Medical Genetics (ABMG). Education Medical School Universidad Colegio Mayor de Nuestra Senora Del Rosario Facultad de Medicina (2003) Residency St. Barnabas Hospital - Pediatric Residency (2010), Pediatrics Residency Baylor College of Medicine (2012), Medical Genetics Fellowship Baylor College of Medicine/Texas Children's Hospital (2013), Medical Biochemical Genetics Research Interest Clinical management of inborn errors of metabolism Publications Inherited disorders associated to biotin and its metabolism Umaña LA 2024 Jan 2 849-858 Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst AC, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJ, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM American Journal of Human Genetics 2023 Feb 110 215-227 Update on glycogen storage disease: primary hepatic involvement Wright TL, Umaña LA, Ramirez CM Current opinion in pediatrics 2022 Oct 34 496-502 Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM, Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MC, Raymond KM, Freeze HH, Wolfe LA Journal of medical genetics 2022 Jul 59 1104-1115 Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndrome Uhles CL, Barnes S, Uddin N, Umaña LA American Journal of Medical Genetics, Part A 2021 Dec 185 3821-3824 Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients Author Collaboration DS, Author Collaboration CC, Author Collaboration CS, Author Collaboration UD, Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GM, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Umana L, Gotway G Science Advances 2020 Dec 6 Isolated Orotic Aciduria in an 11-Year-Old Boy Vakili H, Umaña LA, Patel K Clinical chemistry 2020 Feb 66 396-397 Clinical exome studies have inconsistent coverage Gotway G, Crossley E, Kozlitina J, Xing C, Fan J, Hornbuckle C, Thies J, Michel D, Quinn C, Scheuerle AE, Umana LA, Uhles CL, Park JY Clinical chemistry 2020 Jan 66 199-206 Homozygous NEK8 Mutations in Siblings with Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease Hassan S, Wolf MT, Umaña LA, Malik S, Uddin N, Andersen J, Aqul A Journal of pediatric gastroenterology and nutrition 2020 Jan 70 E19-E22 Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW American Journal of Medical Genetics, Part A 2017 Aug 173 2176-2188 Results 1-10 of 15 1 2 Next Last Books Featured Books Disorders of One Carbon Metabolism. In Scaglia F and Lee BH, eds. Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways. Umaña LA, Craigen WJ. (2014). Oxford University Press. Disorders of Lipid and Lipoprotein Metabolism. In Rudolph's Pediatrics, 23rd ed, Kline MW, Blaney SM, Giardino AP, Oange JS, Penny DJ, Schutze GE, Shekerdemian LS, eds. Umaña LA, J. Craigen WJ (2018). New York, NY, McGraw-Hill Education; 736-748 Honors & Awards Best Pediatric Specialists/Doctors in DallasD Magazine (2018) Texas Super Doctors - Rising StarsTexas Monthly Magazine (2016) Resident Teaching AwardAlbert Einstein College of Medicine (2009) Professional Associations/Affiliations American Board of Medical Genetics American Board of Pediatrics Society for Inherited Metabolic Disorders (SIMD)
