Genetics, Clinical Genetics, Baylor College of Medicine, 2010
Pediatrics, Pediatrics Residency, University of Texas, 2008
MD, Medicine, University of Puerto Rico, 2005
BS, Biology, University of Puerto Rico, 2001
Interdisciplinary and Emerging Signature Programs
Metabolic Regulation and Disorders
Research Interests
Inborn errors of Metabolism
Fatty Acid Oxidation Disorders
Phenylketonuria
Urea cycle disorders
Awards/Honors
Medical Biochemical Genetics Board Certification (American Board of Medical Genetics and Genomics - 2013)
Clinical Genetics Board Certification (American Board of Medical Genetics and Genomics - 2011)
Pediatrics Board Certification (American Board of Pediatrics - 2009)
Humanism and Teaching Award (Gold Foundation - 2007)
Memberships
Member (Pediatric Academic Societies, 2021 - Present)
Board of Directors (Society of Inherited Metabolic Disorders, 2021 - Present)
Member (Alpha Omega Alpha, 2020 - Present)
Fellow (American Academy of Peditrics, 2016 - Present)
Member (American Society of Human Genetics, 2016 - Present)
Member (American College of Medical Genetics, 2014 - Present)
Member (Society of Inherited Metabolic Disorders, 2012 - Present)
Member (American Medical Association, 2004 - Present)
Recent Publications
Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman K, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Cataldo J. Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study.Journal of inherited metabolic disease. , 2020.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Gelb BD, Kurth I, Hempel M, Kutsche K. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.Brain : a journal of neurology. 143(8) : 2437-2453, 2020.
Ho TT, Gupta SV, Sanchez-Valle A. Prolonged clonazepam-induced withdrawal symptoms in an NAT2 ultraslow acetylator.Pharmacogenomics. 20(2) : 69-73, 2019.
Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.Genetics in medicine : official journal of the American College of Medical Genetics. 21(8) : 1851-1867, 2019.
Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E. Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).Journal of inherited metabolic disease. 42(1) : 169-177, 2019.
Dines JN, Liu YJ, Neufeld-Kaiser W, Sawyer T, Ishak GE, Tully HM, Racobaldo M, Sanchez-Valle A, Disteche CM, Juusola J, Torti E, McWalter K, Doherty D, Dipple KM. Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.American journal of medical genetics. Part A. 179(9) : 1783-1790, 2019.
O''Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.American journal of human genetics. 104(6) : 1210-1222, 2019.
Sanchez-Valle A, Kassira N, Varela VC, Radu SC, Paidas C, Kirby RS. Biliary Atresia: Epidemiology, Genetics, Clinical Update, and Public Health Perspective.Advances in pediatrics. 64(1) : 285-305, 2017.
Odom J, Gieron-Korthals M, Shulman D, Newkirk P, Prijoles E, Sanchez-Valle A. A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.Journal of medical case reports. 10: 25, 2016.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O''Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, Matthijs G, Freeze HH. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.Human mutation. 37(7) : 653-60, 2016.
Burnside RD, Harris A, Speyer D, Burgin WS, Rose DZ, Sanchez-Valle A. Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes.Cytogenetic and genome research. 150(1) : 46-51, 2016.
Burton B, Grant M, Feigenbaum A, Singh R, Hendren R, Siriwardena K, Phillips J, Sanchez-Valle A, Waisbren S, Gillis J, Prasad S, Merilainen M, Lang W, Zhang C, Yu S, & Stahl S. A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.Molecular Genetics and Metabolism. 114(3) : 415-24, 2015.
Toriello HV, Erick M, Alessandri JL, Bailey D, Brunetti-Pierri N, Cox H, Fryer A, Marty D, McCurdy C, Mulliken JB, Murphy H, Omlor J, Pauli RM, Ranells JD, Sanchez-Valle A, Tobiasz A, Van Maldergem L, & Lin AE. Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease.American Journal of Medical Genetics. Part A. 161(3) : 417-29, 2013.
Kono M, Akiyama M, Suganuma M, Tomita Y, Sanchez-Valle A. Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link?International journal of dermatology. 52(12) : 1582-4, 2013.
Sanchez-Valle A, Pierpont ME, Potocki L. The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.American journal of medical genetics. Part A. 155A(2) : 363-6, 2011.
Balasa A, Sanchez-Valle A, Sadikovic B, Sangi-Haghpeykar H, Bravo J, Chen L, Liu W, Wen S, Fiorotto ML, Veyver IB. Chronic maternal protein deprivation in mice is associated with overexpression of the cohesin-mediator complex in liver of their offspring.The Journal of Nutrition. 12(141) : 2106-12, 2011.
Sanchez-Valle A, Wang X, Potocki L, Xia Z, Kang SH, Carlin ME, Michel D, Williams P, Cabrera-Meza G, Brundage EK, Eifert AL, Stankiewicz P, Cheung SW, Lalani SR. HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.American journal of medical genetics. Part A. 152A(11) : 2854-60, 2010.
Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.American journal of human genetics. 86(3) : 462-70, 2010.
