Author

Desiree DeMille

Observed names: DeMille, D., DeMille, Desiree, Desiree S DeMille

Institutions: ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories (United States)

Observed institutions: Brigham Young University, ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories (United States)

ORCID: 0000-0001-7924-3379

Observed ORCID: 0000-0001-7924-3379

OpenAlex ID: A5079292409

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

2020 · Jamie McDonald, Pinar Bayrak-Toydemir, et al. · Genetics in Medicine · 91

PAS kinase is activated by direct SNF1-dependent phosphorylation and mediates inhibition of TORC1 through the phosphorylation and activation of Pbp1

2014 · Desiree DeMille, Bryan D. Badal, et al. · Molecular Biology of the Cell · 55

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PAS kinase: A nutrient sensing regulator of glucose homeostasis

2013 · Desiree DeMille, Julianne H. Grose · IUBMB Life · 29

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

2024 · Jiarna R. Zerella, Claire C. Homan, et al. · Blood · 22

A comprehensive protein–protein interactome for yeast PAS kinase 1 reveals direct inhibition of respiration through the phosphorylation of Cbf1

2014 · Desiree DeMille, Benjamin T. Bikman, et al. · Molecular Biology of the Cell · 15

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Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

2018 · Desiree DeMille, Colleen M. Carlston, et al. · American Journal of Medical Genetics Part A · 12

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

2024 · Desiree DeMille, Jamie McDonald, et al. · Human Mutation · 11

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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

2024 · Sissy Bassani, Jacqueline Chrast, et al. · Genome Medicine · 9

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The Regulation of Cbf1 by PAS Kinase Is a Pivotal Control Point for Lipogenesis vs. Respiration in Saccharomyces cerevisiae

2018 · Desiree DeMille, Jenny A Pape, et al. · G3 Genes Genomes Genetics · 7

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

2025 · Katrine M. Johannesen, Khaing Phyu Aung, et al. · Journal of Clinical Investigation · 3

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ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy

2023 · Hamish S Scott, Jiarna Zerella, et al. · Blood · 2

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13th International HHT Scientific Conference: June 12–16, 2019, San Juan, Puerto Rico

2019 · DeMille, D., McDonald, J., et al. · Angiogenesis · 1

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

2026 · Hendrikus J van Heesbeen, Nazim Rabouhi, et al. · eLife

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

2026 · Hendrikus J van Heesbeen, Nazim Rabouhi, et al. · eLife

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

2026 · Hendrikus J. van Heesbeen, Nazim Rabouhi, et al. · bioRxiv (Cold Spring Harbor Laboratory)

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Identifying and Characterizing Yeast PAS Kinase 1 Substrates Reveals Regulation of Mitochondrial and Cell Growth Pathways

2015 · Desiree DeMille · ScholarsArchive (Brigham Young University)

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In-silico Robust Reconstruction of the Per-Arnt-Sim Kinase Pathway using Dynamical Structure Functions

2012 · Vikranth Babu Tirumala Chetty, John Adebayo, et al. · Open Repository and Bibliography (University of Luxembourg)

Works count: 22

Citation count: 257

H-index: 8

I10-index: 7