Claudia Soler-Alfonso
Picture
Claudia Soler-Alfonso
Assistant Professor
Positions
- Assistant Professor
-
Mol. & Human Gen.
Baylor College of Medicine
Houston, TX US
Addresses
- Texas Children's Genetics and Metabolic Clinic (Clinic)
-
Texas Children's Wallace Tower
6701 Fannin Street, 16th Floor
Houston, TX 77030
United States
Phone: (832) 822-4280
soler@bcm.edu
Education
- Fellowship at Children's Hospital of Philadelphia
- 06/2015 - Philadelphia, Pennsylvania United States
- Clinical Biochemical Genetics
- Residency at University of Texas Health Science Center - Houston
- 06/2014 - Houston, Texas United States
- Pediatrics/Medical Genetics combined program
- MD from El Bosque University, Colombian School of Medicine.
- 12/2004 - Bogota, Colombia
Certifications
- Clinical Genetics
- American Board of Medical Genetics and Genomics
- Biochemical Genetics
- American Board of Medical Genetics and Genomics
Professional Interests
- Glycogen metabolism, lactate and pyruvate metabolism. Development of novel therapies for inborn errors of metabolism.
Professional Statement
I am a clinician and researcher in Medical Genetics and Metabolic Genetics. My role in the medical team is to utilize state-of-the-art genetic testing to diagnose genetic disorders. I strive to provide accurate answers to guide clinical interventions and increase the chances of successful outcomes. Patients referred to my clinic present various symptoms, including developmental delays, autism, growth delays, hypoglycemia, and other metabolic problems. I lead through investigations on the possible genetic causes underlying their conditions, ensuring the use of the most advanced genetic testing for each clinical scenario. As a geneticist, I spend enough time with each child and family to provide the best information, counseling, and guidance in the diagnostic and treatment process. My clinical expertise includes inborn errors of metabolism, chromosomal, and single-gene disorders, amongst others.Selected Publications
- Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP. "CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.." Eur J Hum Genet.. 2014 Sep;22(9):1071-6.. Pubmed PMID: 24424125
- Soler-Alfonso C, Enns GM, Koenig MK, Saavedra H, Bonfante-Mejia E, Northrup H. "Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.." Pediatr Neurol.. 2015 Mar;52(3):361-5. Pubmed PMID: 25591832
- Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR. "Improved standards for prenatal diagnosis of citrullinemia.." Mol Genet Metab.. 2014 Jul;112(3):205-9. Pubmed PMID: 24889030
- Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. "Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.." Am J Med Genet A.. 2014 Feb;164(2):500-4. Pubmed PMID: 24311450
- Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L. "Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.." J Pediatr.. 2011 Apr;158(4):655-659. Pubmed PMID: 21168152
Memberships
- American College of Medical Genetics and Genomics
- North American Metabolic Academy (SIMD NAMA)
Languages
Spanish
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