Associated Papers
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Ultrarare Loss-of-Function Mutations in the Genes Encoding the Ionotropic Glutamate Receptors of Kainate Subtypes Associated with Schizophrenia Disrupt the Interaction with PSD95.
Hu TM et al.
Journal of Personalized Medicine, 2022
35629206 (PubMed )
Supplement: jpm-12-00783-s001.zip › Supplementary_Figures_1.pdf
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C et al.
American Journal of Human Genetics, 2022
35460607 (PubMed )
Supplement: mmc2.xlsx › Table_S4
A renal cell carcinoma tumorgraft platform to advance precision medicine.
Elias R et al.
Cell Reports, 2021
34818533 (PubMed )
Supplement: NIHMS1761779-supplement-Table_S8.xlsx › Sheet1
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