Alberto Santiago-Cornier

Medical Genetics
252 San Jorge Street
Suite 408
Santurce, PR 00912

Last Updated: 09/26/2026

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Found 7 publications

Reply to Shan et al.: Bone-Specific Manifestations of Spondylothoracic Dysostosis in Jarcho-Levin Syndrome.

Reply to Shan et al.: Bone-Specific Manifestations of Spondylothoracic Dysostosis in Jarcho-Levin Syndrome.

Journal: American journal of respiratory and critical care medicine
Published: January 21, 2025

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome.

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome.

Journal: Cureus
Published: April 09, 2023

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.

Journal: Human molecular genetics
Published: February 15, 2023

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.

Journal: The American journal of case reports
Published: May 18, 2022

Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms.

Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms.

Journal: AME case reports
Published: April 07, 2021

9q34 & 16p13 chromosome duplications in autism.

9q34 & 16p13 chromosome duplications in autism.

Journal: AME case reports
Published: June 03, 2019

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Journal: Annals of the American Thoracic Society
Published: August 17, 2016
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Last Updated: 09/26/2026