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Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a <italic>NADK2</italic> start loss variant.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 692, doi. 10.1002/ajmg.a.38602
By:
- Pomerantz, Daniel J.;
- Ferdinandusse, Sacha;
- Cogan, Joy;
- Cooper, David N.;
- Reimschisel, Tyler;
- Robertson, Amy;
- Bican, Anna;
- McGregor, Tracy;
- Gauthier, Jackie;
- Millington, David S.;
- Andrae, Jaime L. W.;
- Tschannen, Michael R.;
- Helbling, Daniel C.;
- Demos, Wendy M.;
- Denis, Simone;
- Wanders, Ronald J. A.;
- Newman, John N.;
- Hamid, Rizwan;
- Phillips, III, John A.;
- Collaborators of UDN
Publication type:
Article
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2557, doi. 10.1002/ajmg.a.38258
By:
- Schilter, Kala F.;
- Steiner, Jack E.;
- Demos, Wendy;
- Maheshwari, Mohit;
- Prokop, Jeremy W.;
- Worthey, Elizabeth;
- Drolet, Beth A.;
- Siegel, Dawn H.
Publication type:
Article
Age-Based Dynamics of a Stable Circulating Cd8 T Cell Repertoire Component.
Published in:
Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01717
By:
- Naumova, Elena N.;
- Yassai, Maryam B.;
- Demos, Wendy;
- Reed, Erica;
- Unruh, Melissa;
- Haribhai, Dipica;
- Williams, Calvin B.;
- Naumov, Yuri N.;
- Gorski, Jack
Publication type:
Article
RNA Sequencing Reveals Cancer-Associated Changes in Laryngeal Cells Exposed to Non-Acid Pepsin.
Published in:
2021
By:
- Samuels, Tina L.;
- Zimmermann, Michael T.;
- Zeighami, Atefeh;
- Demos, Wendy;
- Southwood, Jessica E.;
- Blumin, Joel H.;
- Bock, Jonathan M.;
- Johnston, Nikki
Publication type:
journal article
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Published in:
Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.606820
By:
- Zimmermann, Michael T.;
- Mathison, Angela J.;
- Stodola, Tim;
- Evans, Douglas B.;
- Abrudan, Jenica L.;
- Demos, Wendy;
- Tschannen, Michael;
- Aldakkak, Mohammed;
- Geurts, Jennifer;
- Lomberk, Gwen;
- Tsai, Susan;
- Urrutia, Raul
Publication type:
Article
Rare disease research resources at the Rat Genome Database.
Published in:
Genetics, 2023, v. 224, n. 4, p. 1, doi. 10.1093/genetics/iyad078
By:
- Kaldunski, Mary L.;
- Smith, Jennifer R.;
- Brodie, Kent C.;
- De Pons, Jeffrey L.;
- Demos, Wendy M.;
- Gibson, Adam C.;
- Hayman, G. Thomas;
- Lamers, Logan;
- Laulederkind, Stanley J. F.;
- Thorat, Ketaki;
- Thota, Jyothi;
- Tutaj, Marek A.;
- Tutaj, Monika;
- Vedi, Mahima;
- Wang, Shur-Jen;
- Zacher, Stacy;
- Dwinell, Melinda R.;
- Kwitek, Anne E.
Publication type:
Article
2022 updates to the Rat Genome Database: a Findable, Accessible, Interoperable, and Reusable (FAIR) resource.
Published in:
Genetics, 2023, v. 224, n. 1, p. 1, doi. 10.1093/genetics/iyad042
By:
- Vedi, Mahima;
- Smith, Jennifer R.;
- Hayman, G. Thomas;
- Tutaj, Monika;
- Brodie, Kent C.;
- De Pons, Jeffrey L.;
- Demos, Wendy M.;
- Gibson, Adam C.;
- Kaldunski, Mary L.;
- Lamers, Logan;
- Laulederkind, Stanley J. F.;
- Thota, Jyothi;
- Thorat, Ketaki;
- Tutaj, Marek A.;
- Wang, Shur-Jen;
- Zacher, Stacy;
- Dwinell, Melinda R.;
- Kwitek, Anne E.
Publication type:
Article
MOET: a web-based gene set enrichment tool at the Rat Genome Database for multiontology and multispecies analyses.
Published in:
Genetics, 2022, v. 220, n. 4, p. 1, doi. 10.1093/genetics/iyac005
By:
- Vedi, Mahima;
- Nalabolu, Harika S.;
- Chien-Wei Lin;
- Hoffman, Matthew J.;
- Smith, Jennifer R.;
- Brodie, Kent;
- De Pons, Jeffrey L.;
- Demos, Wendy M.;
- Gibson, Adam C.;
- Hayman, G. Thomas;
- Hill, Morgan L.;
- Kaldunski, Mary L.;
- Lamers, Logan;
- Laulederkind, Stanley J. F.;
- Thorat, Ketaki;
- Thota, Jyothi;
- Tutaj, Monika;
- Tutaj, Marek A.;
- Shur-Jen Wang;
- Zacher, Stacy
Publication type:
Article
Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis.
Published in:
Cells (2073-4409), 2020, v. 9, n. 3, p. 571, doi. 10.3390/cells9030571
By:
- Seminary, Emily R.;
- Santarriaga, Stephanie;
- Wheeler, Lynn;
- Mejaki, Marie;
- Abrudan, Jenica;
- Demos, Wendy;
- Zimmermann, Michael T.;
- Urrutia, Raul A.;
- Fee, Dominic;
- Barkhaus, Paul E.;
- Ebert, Allison D.
Publication type:
Article
The Rat Genome Database: Genetic, Genomic, and Phenotypic Data Across Multiple Species.
Published in:
Current Protocols, 2023, v. 3, n. 6, p. 1, doi. 10.1002/cpz1.804
By:
- Laulederkind, Stanley J. F.;
- Hayman, G. Thomas;
- Wang, Shur‐Jen;
- Kaldunski, Mary L.;
- Vedi, Mahima;
- Demos, Wendy M.;
- Tutaj, Monika;
- Smith, Jennifer R.;
- Lamers, Logan;
- Gibson, Adam C.;
- Thorat, Ketaki;
- Thota, Jyothi;
- Tutaj, Marek A.;
- de Pons, Jeffrey L.;
- Dwinell, Melinda R.;
- Kwitek, Anne E.
Publication type:
Article
Ontological Analysis of Coronavirus Associated Human Genes at the COVID-19 Disease Portal.
Published in:
Genes, 2022, v. 13, n. 12, p. 2304, doi. 10.3390/genes13122304
By:
- Wang, Shur-Jen;
- Brodie, Kent C.;
- De Pons, Jeffrey L.;
- Demos, Wendy M.;
- Gibson, Adam C.;
- Hayman, G. Thomas;
- Hill, Morgan L.;
- Kaldunski, Mary L.;
- Lamers, Logan;
- Laulederkind, Stanley J. F.;
- Nalabolu, Harika S.;
- Thota, Jyothi;
- Thorat, Ketaki;
- Tutaj, Marek A.;
- Tutaj, Monika;
- Vedi, Mahima;
- Zacher, Stacy;
- Smith, Jennifer R.;
- Dwinell, Melinda R.;
- Kwitek, Anne E.
Publication type:
Article

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