ClaudiaRocioSoler-AlfonsoMD

PubMed

• Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
  Vuocolo, B., Sierra, R., Brooks, D., Holder, C., Urbanski, L., Rodriguez, K., Gamez, J., Mulukutla, S., Berry, L., Hernandez, A., Allegre, A., Hidalgo, H., Rodriguez, ...> ;Research Square. 2023 Dec 13
• 6 citations
  Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
  Christina Y Miyake, Erica J Lay, Claudia Soler-Alfonso, Kevin E Glinton, Kimberly M Houck, Mustafa Tosur, Nancy E Moran, Sara B Stephens, Fernando Scaglia, Taylor S Ho...> ;Genetics in Medicine. 2023 Apr 1
• 8 citations
  Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
  Rebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, Akihiro Asai, Ariana L Smith, Deeksha S Bali, Peter B Kang, Andrew P Landstrom, H Orhan Akman, T Andrew Burrow,...> ;Molecular Genetics and Metabolism. 2023 Mar 1
• 6 citations
  Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
  Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes ...> ;Genetics in Medicine. 2023 Jun 1
• 9 citations
  Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
  Christina Y Miyake, Erica J Lay, Cheyenne M Beach, Scott R Ceresnak, Caridad M Delauz, Taylor S Howard, Christopher M Janson, Kate Jardine, Prince J Kannankeril, Maina...> ;Heart Rhythm. 2022 Oct 1
• 8 citations
  Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.
  Eran Tallis, Cecile L Karsenty, Amanda B Grimes, Lina B Karam, Sarah H Elsea, Vernon Reed Sutton, Brandy L Rawls-Castillo, Ning Liu, Claudia Soler-Alfonso> ;JIMD Reports. 2022 Jul 1
• 4 citations
  Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
  Mustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, Michael M. Khayat, Shalini N. Jhangiani, Qingchang Meng, Ahmad K. Refaey, Donna M. Muzny, Richard A. Gibbs, David R...> ;Pediatric Diabetes. 2021 Aug 19
• 5 citations
  PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
  Sugi Panneerselvam, Julia Wang, Wenmiao Zhu, Hongzheng Dai, John Pappas, Rachel Rabin, Karen J. Low, Jill A. Rosenfeld, Lisa Emrick, Rui Xiao, Fan Xia, Yaping Yang, Ch...> ;Clinical Genetics. 2021 May 8
• 3 citations
  Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.
  Jaehyung Lim, Brian J. Shayota, Erica Lay, Sarah H. Elsea, Mir Reza Bekheirnia, Mary Elizabeth M. Tessier, Stephen F. Kralik, Gregory M. Rice, Claudia Soler-Alfonso, F...> ;Journal of Child Neurology. 2021 Apr 26
• 11 citations
  TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation
  Chaya N. Murali, Claudia Soler-Alfonso, Kathleen M. Loomes, Amit A. Shah, Danielle Monteil, Carmencita D. Padilla, Fernando Scaglia, Rebecca D. Ganetzky> ;Molecular Genetics and Metabolism. 2021 Jan 14
• 36 citations
  Clinical trials in mitochondrial disorders, an update
  Mohammed Almannai, Ayman W. El-Hattab, May Ali, Claudia Soler-Alfonso, Fernando Scaglia> ;Molecular Genetics and Metabolism. 2020 Sep 1
• Survival and Neurologic Recovery After Prompt Diagnosis and Aggressive Management of Severe Idiopathic Hyperammonemic Encephalopathy in a Patient with Acute Myeloid Le...
  Ross Mangum, Claudia Soler-Alfonso, Sherri Birchansky, Alexandra M. Stevens> ;Journal of Pediatric Hematology/oncology. 2020 Jul 23
• 5 citations
  Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS
  Rachel Franciskovich, Claudia Soler-Alfonso, Juanita Neira-Fresneda, James R. Lupski, Bonnie McCann-Crosby, Lorraine Potocki> ;American Journal of Medical Genetics. Part A. 2020 Jul 13
• 28 citations
  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.
  Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, Daniel L. Po...> ;American Journal of Human Genetics. 2020 Jul 2
• 31 citations
  Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
  Nishitha R. Pillai, Bridget M. Stroup, Anna D. Poliner, Linda Z. Rossetti, Brandy Rawls, Brian J. Shayota, Claudia Soler-Alfonso, Hari Priya Tunuguntala, John A. Goss,...> ;Molecular Genetics and Metabolism. 2019 Nov 7
• 11 citations
  L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.
  Claudia Soler-Alfonso, Nishita Pillai, Erin Cooney, Krupa R. Mysore, Suzanne Boyer, Fernando Scaglia> ;Molecular Genetics and Metabolism Reports. 2019 Jan 25
• 17 citations
  Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.
  Brian J. Shayota, Claudia Soler-Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W. Boyer, Rui Xiao, Yaping Yang, Sarah H. Elsea, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2019 Mar 7
• 25 citations
  Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism
  Claudia Soler-Alfonso, Gregory M. Enns, Mary Kay Koenig, Heather Saavedra, Eliana E Bonfante-Mejia, Hope Northrup> ;Pediatric Neurology. 2015 Mar 1
• 33 citations
  CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
  Claudia Soler-Alfonso, Claudia M.B. Carvalho, Jun Ge, Erin K. Roney, Patricia I. Bader, Katarzyna E. Kolodziejska, Rachel M Miller, James R. Lupski, Pawel Stankiewicz,...> ;European Journal of Human Genetics. 2014 Sep 1
• 7 citations
  Improved standards for prenatal diagnosis of citrullinemia.
  Marcus J. Miller, Claudia Soler-Alfonso, Jaime E. Grund, Ping Fang, Sarah H. Elsea, V. Reid Sutton, Qin Sun> ;Molecular Genetics and Metabolism. 2014 Jul 1
• 21 citations
  Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome
  Pilar L. Magoulas, Pengfei Liu, Violet Gelowani, Claudia Soler-Alfonso, Emma Kivuva, James R. Lupski, Lorraine Potocki> ;American Journal of Medical Genetics. Part A. 2014 Feb 1
• 34 citations
  Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive
  Claudia Soler-Alfonso, Kathleen J. Motil, Catherine L. Turk, Patricia Robbins-Furman, Ellen M. Friedman, Feng Zhang, James R. Lupski, J. Kennard Fraley, Lorraine Potocki> ;The Journal of Pediatrics. 2011 Apr 1
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