Work

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

Year: 2014

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2013.291

Authors: Davut Pehlivan, Ender Karaca, Hatip Aydin, Christine R Beck, Tomasz Gambin, Donna M Muzny, B Bilge Geckinli, Ali Karaman, Shalini N Jhangiani, Richard A Gibbs, James R Lupski

Institutions: Baylor College of Medicine, Zeynep Kamil Hospital, Texas Children's Hospital

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Human Genome Research Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Baylor-Johns Hopkins Center for Mendelian Genetics, Baylor Intellectual and Developmental Disabilities Research Centers, The Human Genome Sequencing Center

OpenAlex ID: W2061403019

FWCI: 1.095

Cites: 15

Cited by: 24

Related to: 10