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Catherine Groden

Researcher at National Institutes of Health

Publications -  51
Citations -  3490

Catherine Groden is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Parkinsonism & Exome sequencing. The author has an hindex of 23, co-authored 48 publications receiving 2914 citations.

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NT5E mutations and arterial calcifications.

TL;DR: Clinical, radiographic, and genetic studies in three families with symptomatic arterial calcifications identified nine persons with calcifications of the lower-extremity arteries and hand and foot joint capsules, all five siblings in one family, three siblings in another, and one patient in a third family.
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Both IL‐12p70 and IL‐23 are synthesized during active Crohn's disease and are down‐regulated by treatment with anti‐IL‐12 p40 monoclonal antibody

TL;DR: It is concluded that CD but not ulcerative colitis is associated with high levels of both IL‐12p70 and IL‐23 secretion as well as the secretion of downstream effector cytokines, and that this cytokine production is down‐regulated following administration of IL‐ 12p40 mAb.
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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

TL;DR: The National Institutes of Health Undiagnosed Diseases Program addresses an unmet need and may serve as a model for the clinical application of emerging genomic technologies and is providing insights into the characteristics of diseases that remain undiagnose after extensive clinical workup.
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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Julia Wang, +185 more
TL;DR: MARRVEL dramatically improves efficiency and accessibility to data collection and facilitates analysis of human genes and variants by cross-disciplinary integration of 18 million records available in public databases to facilitate clinical diagnosis and basic research.