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Alberto Santiago-Cornier

Title
Faculty RankAssociate Professor
InstitutionPonce Health Sciences University
DepartmentPublic Health
AddressP.O. Box 7021
Ponce PR 00733
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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. Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. Hum Mol Genet. 2023 09 16; 32(19):2913-2928. PMID: 37462524.
      Citations: 3     Fields:    Translation:HumansAnimals
    2. Cruz-Centeno N, Saenz-Maisonet JF, L?pez-Dones PM, Santiago-Cornier A, Ortiz-Justiniano VN. Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta. Am J Case Rep. 2022 May 18; 23:e935526. PMID: 35581901.
      Citations:    Fields:    Translation:Humans
    3. Carlo SE, Martinez-Baladejo MT, Santiago-Cornier A, Arciniegas-Medina N. 9q34 & 16p13 chromosome duplications in autism. AME Case Rep. 2020; 4:17. PMID: 32793859.
      Citations:    
    4. Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Ann Am Thorac Soc. 2016 10; 13(10):1839-1846. PMID: 27529121.
      Citations: 49     Fields:    Translation:HumansAnimals
    5. Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. Am J Med Genet A. 2015 Jan; 167A(1):95-102. PMID: 25348728.
      Citations: 5     Fields:    Translation:Humans
    6. Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J. The musculoskeletal manifestations of the Coffin-Lowry syndrome. J Pediatr Orthop. 2007 Jan-Feb; 27(1):85-9. PMID: 17195803.
      Citations: 3     Fields:    Translation:Humans
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