AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019 · Nature Communications · 242 citations
https://doi.org/10.1038/s41467-019-10910-w
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Reza Maroofian
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Reza Maroofian is an academic researcher from Wellcome Centre for Human Neuroimaging. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Mitochondrial Function and Pathology. The author has an h-index of 40, co-authored 267 publications.
ORCID: 0000-0001-6763-1542Papers by this author
worksLoss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
2019 · Journal of Clinical Investigation · 101 citations
https://doi.org/10.1172/jci123959
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
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
2023 · Genome Medicine · 66 citations
https://doi.org/10.1186/s13073-023-01240-0
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
2013 · The American Journal of Human Genetics · 52 citations
https://doi.org/10.1016/j.ajhg.2013.10.001
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
2020 · Genetics in Medicine · 35 citations
https://doi.org/10.1038/s41436-020-01028-2
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