Work

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

Year: 2010

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2010.02.001

Authors: Feng Zhang, Lorraine Potocki, Jacinda B. Sampson, Pengfei Liu, Amarilis Sanchez-Valle, Patricia Robbins-Furman, Alicia Delicado Navarro, Patricia G. Wheeler, J. Edward Spence, Campbell K. Brasington, Marjorie A. Withers, James R. Lupski

Institutions: Baylor College of Medicine, Fudan University, State Key Laboratory of Genetic Engineering, Texas Children's Hospital, University of Utah, Hospital Universitario La Paz, Nemours Children’s Clinic, Nemours Children's Clinic, Carolinas Medical Center, Levine Children's Hospital

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Ministry of Education of the People's Republic of China, National Institutes of Health, Intellectual and Developmental Disabilities Research Center, Program for New Century Excellent Talents in University, National Institute of Neurological Disorders and Stroke, National Center for Research Resources, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE, G481577519, Baylor Intellectual and Developmental Disabilities Research Center, General Clinical Research Center, G71706220

OpenAlex ID: W2171787074

FWCI: 7.382

Cites: 53

Cited by: 99

Related to: 10