Work

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Year: 2019

Type: article

Source: European Journal of Human Genetics

DOI: 10.1038/s41431-019-0374-9

Authors: Roser Urreizti, Klaus Mayer, Gilad D. Evrony, Edith Said, Laura Castilla-Vallmanya, Neal A. L. Cody, Guillem Plasencia, Bruce D. Gelb, Daniel Grinberg, Ulrich Brinkmann, Bryn D. Webb, Susanna Balcells

Institutions: Centre for Biomedical Network Research on Rare Diseases, Institut de Recerca Sant Joan de Déu, Institut de Biomedicina de la Universitat de Barcelona, Universitat de Barcelona, NYU Langone Health, New York University, University of Malta, Mater Dei Hospital, Sema4 (United States), Icahn School of Medicine at Mount Sinai

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Icahn School of Medicine at Mount Sinai, Ministerio de Economía y Competitividad, Fundación Española para la Ciencia y la Tecnología, National Institutes of Health, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, National Heart, Lung, and Blood Institute

Awards: G2993558363, Transforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC Supercomputer, Genetics of conotruncal defects and associated neurodevelopmental outcomes

OpenAlex ID: W2921923541

FWCI: 1.802

Cites: 25

Cited by: 27

Related to: 10