- Society for Inherited Metabolic Disorders (SIMD)
- American Board of Pediatrics
- American Board of Medical Genetics
Luis Umana, M.D.
- Pediatrics - Genetics and Metabolism
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.
Dr. Umaña 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).
He has been included in D Magazine's Best Doctors list.
Education & Training
- Fellowship - Baylor College of Medicine/Texas Children's Hospital (2012-2013), Medical Biochemical Genetics
- Medical School - Universidad Colegio Mayor de Nuestra Senora Del Rosario Facultad de Medicina (1997-2003)
- Residency - St. Barnabas Hospital - Pediatric Residency (2007-2010), Pediatrics
- Residency - Baylor College of Medicine (2010-2012), Medical Genetics
Professional Associations & Affiliations
Honors & Awards
- D Magazine Best Doctor 2022-2025
- D Magazine Best Pediatric Specialist 2020-2021
- Texas Super Doctors - Rising Stars 2016, Texas Monthly Magazine
- Resident Teaching Award 2009, Albert Einstein College of Medicine
Books & Publications
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Books
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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.
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Disorders of One Carbon Metabolism in Scaglia F and Lee BH, eds. Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways.
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Publications
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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 -
Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia: A Neurogenetic Description
Velasco HM, Sanchez Y, Martin AM, Umaña LA Journal of child neurology 2017 Feb 32 177-183 -
Genética clínica comunitaria: Exploración de patología genética en Boyacá, Colombia
Velasco HM, Martin ÁM, Galvis J, Buelvas L, Sánchez Y, Umaña LA, Acosta J Revista de Salud Publica 2017 Jan 19 61-70 -
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease
Pena JA, Lotze T, Yang Y, Umana LU, Walkiewicz M, Hunter JV, Scaglia F Journal of child neurology 2016 Feb 31 215-219 -
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development
Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Chinault AC, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW Human molecular genetics 2013 Nov 22 4339-4348 -
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH)
Umaña LA, Magoulas P, Bi W, Bacino CA American Journal of Medical Genetics, Part A 2011 Dec 155 3071-3074
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Inherited disorders associated to biotin and its metabolism
Research
- Clinical management of inborn errors of metabolism
Results: 1 Locations
Children's Medical Center of Dallas
1935 Medical District DriveDallas, Texas 75235 214-730-5437 Directions to Children's Medical Center of Dallas at Children's Medical Center of Dallas, Dallas