Associated Papers
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_3
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.
di Ronza A et al.
Nature Cell Biology, 2018
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
Reinhardt K et al.
Clinical Genetics, 2010
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M et al.
Brain : a Journal of Neurology, 2009
Select a paper to view details