Associated Papers
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Golgi inCOGnito: From vesicle tethering to human disease.
D'Souza Z et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report.
Yin S et al.
Experimental and Therapeutic Medicine, 2019
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Ashikov A et al.
Human Molecular Genetics, 2018
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
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