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Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 95, doi. 10.1002/ajmg.a.36799
By:
- Giampietro, Philip F.;
- Armstrong, Linlea;
- Stoddard, Alex;
- Blank, Robert D.;
- Livingston, Janet;
- Raggio, Cathy L.;
- Rasmussen, Kristen;
- Pickart, Michael;
- Lorier, Rachel;
- Turner, Amy;
- Sund, Sarah;
- Sobrera, Nara;
- Neptune, Enid;
- Sweetser, David;
- Santiago‐Cornier, Alberto;
- Broeckel, Ulrich
Publication type:
Article
323 Perceived Stress and Access to Care in Parents of Children Living a Diagnostic Odyssey in Puerto Rico.
Published in:
2023
By:
- Albino, Elinette M;
- Martinez, Karen;
- Carlo, Simon;
- Chapel-Crespo, Cristel;
- Ortiz, Antonio;
- Santiago-Cornier, Alberto;
- Velez-Bartolomei, Frances;
- Buxo, Carmen
Publication type:
Abstract
360 Retrospective Evaluation of Whole-Exome Sequencing in Puerto Ricans with Neurogenetic Complex Traits.
Published in:
2022
By:
- Albino, Elinette;
- Carlo, Simon;
- Chapel-Crespo, Cristel;
- Santiago-Cornier, Alberto;
- Buxo, Carmen
Publication type:
Abstract
11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans.
Published in:
2021
By:
- Albino, Elinette;
- Buxo, Carmen;
- Scaglia, Fernando;
- Santiago-Cornier, Alberto
Publication type:
Abstract
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 19, p. 2913, doi. 10.1093/hmg/ddad117
By:
- Rebello, Denise;
- Wohler, Elizabeth;
- Erfani, Vida;
- Li, Guozhuang;
- Aguilera, Alexya N;
- Santiago-Cornier, Alberto;
- Zhao, Sen;
- Hwang, Steven W;
- Steiner, Robert D;
- Zhang, Terry Jianguo;
- Gurnett, Christina A;
- Raggio, Cathleen;
- Wu, Nan;
- Sobreira, Nara;
- Giampietro, Philip F;
- Ciruna, Brian
Publication type:
Article
Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.
Published in:
2022
By:
- Cruz-Centeno, Nelimar;
- Saenz-Maisonet, Jean F.;
- López-Dones, Paola M.;
- Santiago-Cornier, Alberto;
- Ortiz-Justiniano, Victor N.
Publication type:
Case Study
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Published in:
2016
By:
- Vicary, Glenn W.;
- Vergne, Yeidyly;
- Santiago-Cornier, Alberto;
- Young, Lisa R.;
- Roman, Jesse
Publication type:
journal article

Found: 7

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

323 Perceived Stress and Access to Care in Parents of Children Living a Diagnostic Odyssey in Puerto Rico.

360 Retrospective Evaluation of Whole-Exome Sequencing in Puerto Ricans with Neurogenetic Complex Traits.

11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans.

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

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

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.