Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2020 · The American Journal of Human Genetics · 81 citations
https://doi.org/10.1016/j.ajhg.2020.02.007
S
Suliman Khan
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Suliman Khan is an academic researcher from Centogene (Germany). The author has contributed to research in topics: Wnt/β-catenin signaling in development and cancer & Skin and Cellular Biology Research & Genomic variations and chromosomal abnormalities. The author has an h-index of 13, co-authored 27 publications.
ORCID: 0000-0002-0745-7834Papers by this author
worksLoss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
2022 · Nature Genetics · 26 citations
https://doi.org/10.1038/s41588-022-01120-0
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
2024 · Nature Communications · 10 citations
https://doi.org/10.1038/s41467-024-45933-5
Adding evidence to the role of <scp> <i>NEUROG1</i> </scp> in congenital cranial dysinnervation disorders
2021 · Clinical Genetics · 5 citations
https://doi.org/10.1111/cge.13922
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