DLG4-related synaptopathy: a new rare brain disorder
2021 · Genetics in Medicine · 49 citations
https://doi.org/10.1038/s41436-020-01075-9
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Carlos E. Prada
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Carlos E. Prada is an academic researcher from Northwestern University. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Cellular transport and secretion & Metabolism and Genetic Disorders. The author has an h-index of 32, co-authored 170 publications.
ORCID: 0000-0003-3348-3531Papers by this author
worksRole of CAMK2D in neurodevelopment and associated conditions
2024 · The American Journal of Human Genetics · 32 citations
https://doi.org/10.1016/j.ajhg.2023.12.016
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
2021 · Human Genetics and Genomics Advances · 11 citations
https://doi.org/10.1016/j.xhgg.2021.100072
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
2023 · Genetics in Medicine · 8 citations
https://doi.org/10.1016/j.gim.2023.100835
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome
2022 · Genetics in Medicine · 6 citations
https://doi.org/10.1016/j.gim.2022.100003
P144: Persistence of growth-promoting effects in children with achondroplasia up to 7 years: Update from phase 2 extension study with vosoritide*
2024 · Genetics in Medicine Open · 4 citations
https://doi.org/10.1016/j.gimo.2024.101041
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