Associated Papers
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Spataro R et al.
Human Genomics, 2019
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
Zahir FR et al.
Bmc Genomics, 2017
28539120 (PubMed )
Supplement: 12864_2017_3671_MOESM8_ESM.xlsx › Patient_51
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