Katharine Bisordi
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Explore the profile of Katharine Bisordi including associated specialties, affiliations and a list of published articles.
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9
Citations
339
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Recent Articles
1.
Baron J, Johnson C, Schor M, Olley D, Nickel L, Felix V, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1305-D1314.
PMID: 37953304
In 2003, the Human Disease Ontology (DO, https://disease-ontology.org/) was established at Northwestern University. In the intervening 20 years, the DO has expanded to become a highly-utilized disease knowledge resource. Serving...
2.
Schriml L, Lichenstein R, Bisordi K, Bearer C, Baron J, Greene C
J Transl Med
. 2023 Feb;
21(1):148.
PMID: 36829165
Background: Complex diseases often present as a diagnosis riddle, further complicated by the combination of multiple phenotypes and diseases as features of other diseases. With the aim of enhancing the...
3.
Zhang H, Kleinberger J, Maloney K, Guan Y, Mathias T, Bisordi K, et al.
Diabetes Care
. 2022 Jun;
45(8):1799-1806.
PMID: 35763601
Objective: To implement, disseminate, and evaluate a sustainable method for identifying, diagnosing, and promoting individualized therapy for monogenic diabetes. Research Design And Methods: Patients were recruited into the implementation study...
4.
Schriml L, Munro J, Schor M, Olley D, McCracken C, Felix V, et al.
Nucleic Acids Res
. 2021 Nov;
50(D1):D1255-D1261.
PMID: 34755882
The Human Disease Ontology (DO) (www.disease-ontology.org) database, has significantly expanded the disease content and enhanced our userbase and website since the DO's 2018 Nucleic Acids Research DATABASE issue paper. Conservatively,...
5.
Badawi D, Bisordi K, Timmel M, Sorongon S, Strovel E
Int J Neonatal Screen
. 2020 Oct;
5(3):25.
PMID: 33072984
This demonstration project explored the feasibility of utilizing data from pediatric primary care providers to evaluate the long-term outcomes of children with disorders identified by newborn screening (NBS). Compliance with...
6.
Sulmonte L, Bisordi K, Ulm E, Nusbaum R
J Genet Couns
. 2020 Jul;
30(1):246-256.
PMID: 32683768
Duchenne muscular dystrophy (DMD) is a progressive childhood onset neuromuscular disease with no known cure. There is extensive literature about the impact of a diagnosis on the psychosocial well-being of...
7.
Schriml L, Mitraka E, Munro J, Tauber B, Schor M, Nickle L, et al.
Nucleic Acids Res
. 2018 Nov;
47(D1):D955-D962.
PMID: 30407550
The Human Disease Ontology (DO) (http://www.disease-ontology.org), database has undergone significant expansion in the past three years. The DO disease classification includes specific formal semantic rules to express meaningful disease models...
8.
Leppert K, Bisordi K, Nieto J, Maloney K, Guan Y, Dixon S, et al.
J Genet Couns
. 2018 Apr;
27(6):1328-1340.
PMID: 29687313
Newborn screening (NBS) is a public health program whose aim is to identify infants who will be clinically affected with a serious metabolic, genetic, or endocrine disorder; however, the technology...
9.
Sweet C, Chatterjee S, Xu Z, Bisordi K, Rosen E, Alber M
J R Soc Interface
. 2011 May;
8(65):1760-71.
PMID: 21593027
In this paper, a new three-dimensional modelling approach is described for studying fluid-viscoelastic cell interaction, the subcellular element Langevin (SCEL) method, with cells modelled by subcellular elements (SCEs) and SCE...