Work

Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome

Year: 2023

Type: article

Study design: Case Report

Source: Brain and Development

DOI: 10.1016/j.braindev.2023.05.006

Authors: Chenchen Wu, Gustavo H.B. Maegawa, Huiwen Zhang

Institutions: Shanghai Jiao Tong University, XinHua Hospital, Morgan Stanley Children's Hospital, Columbia University Irving Medical Center

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: closed

Funders: Shanghai Municipal Health Commission, Shanghai Municipal Education Commission, Science and Technology Commission of Shanghai Municipality

Awards: G1667063371, G3979198670, G4054792168, G8582480175

OpenAlex ID: W4380091932

FWCI:

Cites: 43

Cited by:

Related to: 10