The <i>GPR54</i> Gene as a Regulator of Puberty
2003 · New England Journal of Medicine · 2,524 citations
https://doi.org/10.1056/nejmoa035322
J
James F. Gusella
Broad Institute(US)
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James F. Gusella is an academic researcher from Broad Institute. The author has contributed to research in topics: Genetic Neurodegenerative Diseases & Mitochondrial Function and Pathology & Genomic variations and chromosomal abnormalities. The author has an h-index of 132, co-authored 618 publications.
ORCID: 0000-0003-0681-9263Papers by this author
worksHuntington disease
2015 · Nature Reviews Disease Primers · 1,506 citations
https://doi.org/10.1038/nrdp.2015.5
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
2008 · Nature Genetics · 444 citations
https://doi.org/10.1038/ng.149
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
2012 · Nature · 427 citations
https://doi.org/10.1038/nature11091
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
2016 · Nature Genetics · 350 citations
https://doi.org/10.1038/ng.3720
A cross-disorder dosage sensitivity map of the human genome
2022 · Cell · 348 citations
https://doi.org/10.1016/j.cell.2022.06.036
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