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CLAUDIA SOLER-ALFONSO

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address6701 FANNIN
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Garcia N, Berry L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR. Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas. J Neurodev Disord. 2024 Sep 09; 16(1):52. PMID: 39251895; PMCID: PMC11382520.
      Citations:    Fields:    Translation:Humans
    2. Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS. Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model. JCI Insight. 2024 May 14; 9(12). PMID: 38912588; PMCID: PMC11383185.
      Citations:    Fields:    Translation:HumansAnimals
    3. Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Berry L, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR. Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement. Res Sq. 2023 Dec 13. PMID: 38168160; PMCID: PMC10760238.
      Citations:    
    4. Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schr?ter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, M?ller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, R?tig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2023 Jun; 25(6):100828. PMID: 37272928.
      Citations:    Fields:    
    5. Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Mol Genet Metab. 2023 03; 138(3):107525. PMID: 36796138.
      Citations: 2     Fields:    Translation:Humans
    6. Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genet Med. 2023 04; 25(4):100352. PMID: 36473599; PMCID: PMC10306319.
      Citations: 3     Fields:    Translation:Humans
    7. McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, R?os-Pohl L, Nussbaum RL, Aradhya S, ELEVIATE Consortium, Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Ben?tez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Due?as-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V, Meibos B, Wong K, Sweney MT, Espinoza AC, Van Orman CB, Weinstock A, Kumar A, Soler-Alfonso C, Nolan DA, Raza M, Rojas Carrion MD, Chari G, Marsh ED, Shiloh-Malawsky Y, Parikh S, Gonzalez-Giraldo E, Fulton S, Sogawa Y, Burns K, Malets M, Montiel Blanco JD, Habela CW, Wilson CA, Guzm?n GG, Pavliuk M. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA Neurol. 2022 12 01; 79(12):1267-1276. PMID: 36315135; PMCID: PMC9623482.
      Citations: 6     Fields:    Translation:Humans
    8. Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Schr?ter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, McFarland R, Margolis MG, Morrison K, M?ller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, R?tig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S, Brennenstuhl H, Lenz D, Staufner C. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2023 06; 25(6):100314. PMID: 36305855.
      Citations: 2     Fields:    Translation:Humans
    9. Tallis E, Karsenty CL, Grimes AB, Karam LB, Elsea SH, Sutton VR, Rawls-Castillo BL, Liu N, Soler-Alfonso C. Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment. JIMD Rep. 2022 Jul; 63(4):309-315. PMID: 35822097; PMCID: PMC9259396.
      Citations:    
    10. Miyake CY, Lay EJ, Beach CM, Ceresnak SR, Delauz CM, Howard TS, Janson CM, Jardine K, Kannankeril PJ, Kava M, Kim JJ, Liberman L, Macicek SL, Pham TD, Robertson T, Valdes SO, Webster G, Stephens SB, Milewicz DM, Azamian M, Ehsan SA, Houck KM, Soler-Alfonso C, Glinton KE, Tosur M, Li N, Xu W, Lalani SR, Zhang L. Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises. Heart Rhythm. 2022 10; 19(10):1673-1681. PMID: 35568137; PMCID: PMC10642301.
      Citations:    Fields:    
    11. Tosur M, Soler-Alfonso C, Chan KM, Khayat MM, Jhangiani SN, Meng Q, Refaey A, Muzny D, Gibbs RA, Murdock DR, Posey JE, Balasubramanyam A, Redondo MJ, Sabo A. Exome sequencing in children with clinically suspected maturity-onset diabetes of the young. Pediatr Diabetes. 2021 11; 22(7):960-968. PMID: 34387403; PMCID: PMC8530905.
      Citations:    Fields:    Translation:Humans
    12. Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S, Undiagnosed Diseases Network, DDD Study, Bi W. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 08; 100(2):227-233. PMID: 33963760.
      Citations: 1     Fields:    Translation:Humans
    13. Lim J, Shayota BJ, Lay E, Elsea SH, Bekheirnia MR, Tessier MEM, Kralik SF, Rice GM, Soler-Alfonso C, Scaglia F. Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852. PMID: 33900143.
      Citations:    Fields:    Translation:Humans
    14. Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R. TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab. 2021 02; 132(2):146-153. PMID: 33485800; PMCID: PMC7903488.
      Citations: 2     Fields:    Translation:HumansCells
    15. Almannai M, El-Hattab AW, Ali M, Soler-Alfonso C, Scaglia F. Clinical trials in mitochondrial disorders, an update. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):1-13. PMID: 33129691; PMCID: PMC7537630.
      Citations: 12     Fields:    Translation:HumansCells
    16. Mangum R, Soler-Alfonso C, Birchansky S, Stevens A. Survival and Neurologic Recovery After Prompt Diagnosis and Aggressive Management of Severe Idiopathic Hyperammonemic Encephalopathy in a Patient with Acute Myeloid Leukemia. J Pediatr Hematol Oncol. 2020 08; 42(6):e452-e455. PMID: 31415019.
      Citations:    Fields:    Translation:Humans
    17. Franciskovich R, Soler-Alfonso C, Neira-Fresneda J, Lupski JR, McCann-Crosby B, Potocki L. Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. Am J Med Genet A. 2020 09; 182(9):2077-2084. PMID: 32656927; PMCID: PMC8445515.
      Citations: 2     Fields:    Translation:Humans
    18. Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Weijers D, Begtrup A, McWalter K, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Billette de Villemeur T, Nugent K, DDD Study, Raymond FL, Venselaar H, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Goel H, Massingham L, Phornphutkul C, Schwab J, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM, Polla DL, Ruiz A, Gabau E, Afenjar A, Demurger F, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Keren B, Charles P, Evenepoel L, Revencu N. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. Am J Hum Genet. 2020 07 02; 107(1):164-172. PMID: 32553196; PMCID: PMC7332645.
      Citations: 7     Fields:    Translation:Humans
    19. Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 2019 12; 128(4):431-443. PMID: 31757659; PMCID: PMC6898966.
      Citations: 9     Fields:    Translation:Humans
    20. Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia F. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 05; 179(5):803-807. PMID: 30848071; PMCID: PMC9873404.
      Citations: 8     Fields:    Translation:Humans
    21. Soler-Alfonso C, Pillai N, Cooney E, Mysore KR, Boyer S, Scaglia F. L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency. Mol Genet Metab Rep. 2019 Jun; 19:100453. PMID: 30740308; PMCID: PMC6355510.
      Citations: 4     
    22. 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. PMID: 25591832.
      Citations: 12     Fields:    Translation:Humans
    23. 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. PMID: 24889030.
      Citations: 2     Fields:    Translation:HumansCells
    24. Soler-Alfonso C, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP, Carvalho CM. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet. 2014 Sep; 22(9):1071-6. PMID: 24424125; PMCID: PMC4135413.
      Citations: 19     Fields:    Translation:HumansCells
    25. 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; 164A(2):500-4. PMID: 24311450.
      Citations: 9     Fields:    Translation:HumansCells
    26. 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.e2. PMID: 21168152; PMCID: PMC3059370.
      Citations: 20     Fields:    Translation:Humans
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