Claudia Soler-Alfonso, MD, FACMG
I am a clinician and researcher in the field of Clinical 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 to increase chances of successful outcomes. Patients referred to my clinic present with a variety of 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 most advanced genetic testing is used for each individual patient. As a Geneticist, I make sure to spend enough time with each child and family to provide the best information available, counseling, and guidance in the diagnostic and treatment process. My clinical expertise includes inborn errors of metabolism, chromosomal and single gene disorders, among others.
Glycogen metabolism, lactate and pyruvate metabolism, and development of novel therapies for metabolic defects of energy generation.
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 September;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 March;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 July;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 February;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 Ap
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