Associated Papers
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP et al.
Expert Review of Endocrinology & Metabolism, 2023
36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1
Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation.
Kong Y et al.
Frontiers in Neurology, 2022
Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage.
Collins BE et al.
Neuropsychiatric Disease and Treatment, 2022
Human GPR17 missense variants identified in metabolic disease patients have distinct downstream signaling profiles.
Conley JM et al.
The Journal of Biological Chemistry, 2021
Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.
Johnson BS et al.
Nature Medicine, 2017
Pubertal development in Rett syndrome deviates from typical females.
Killian JT et al.
Pediatric Neurology, 2014
Linking MECP2 and pain sensitivity: the example of Rett syndrome.
Downs J et al.
American Journal of Medical Genetics. Part A, 2010
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