Associated Papers
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1.
Ziccardi L et al.
International Journal of Molecular Sciences, 2025
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Schmitz-Abe K et al.
Scientific Reports, 2020
32820185 (PubMed )
Supplement: 41598_2020_70656_MOESM1_ESM.pdf
Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.
Jiang YH et al.
Critical Reviews in Clinical Laboratory Sciences, 2014
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C et al.
Brain : a Journal of Neurology, 2007
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