Associated Papers
Cortisol, Stress, and Disease-Bidirectional Associations; Role for Corticosteroid-Binding Globulin?
Lee JH et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin.
Meyer EJ et al.
Journal of the Endocrine Society, 2021
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018
30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
30315151 (PubMed )
Supplement: 41398_2018_226_MOESM2_ESM.xlsx › Supplemental_Table_5
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
A role for corticosteroid-binding globulin variants in stress-related disorders.
Marathe CS et al.
Expert Review of Endocrinology & Metabolism, 2012
CBG Santiago: a novel CBG mutation.
Torpy DJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
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