Associated Papers
Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.
Erro ME et al.
Neurology. Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Top_priority
Isolated Dystonia as an Initial Presentation of GDAP2-Related Disorder.
Di Luca DG et al.
Movement Disorders Clinical Practice, 2023
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Breza M et al.
Brain : a Journal of Neurology, 2020
Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
Dong HL et al.
Brain : a Journal of Neurology, 2020
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Eidhof I et al.
Brain : a Journal of Neurology, 2018
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