Associated Papers
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl
A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.
Charnay T et al.
Frontiers in Endocrinology, 2022
Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.
Abali ZY et al.
Hormones (athens, Greece), 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
Akcan N et al.
Frontiers in Endocrinology, 2017
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.
Vallette-Kasic S et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
Metherell LA et al.
European Journal of Endocrinology, 2004
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