Hannah Blau
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Explore the profile of Hannah Blau including associated specialties, affiliations and a list of published articles.
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Articles
102
Citations
2012
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Recent Articles
1.
Hansen P, Blau H, Hecht J, Karlebach G, Krannich A, Steinhaus R, et al.
NAR Genom Bioinform
. 2024 Dec;
6(4):lqae156.
PMID: 39660253
Hi-C and capture Hi-C (CHi-C) both leverage paired-end sequencing of chimeric fragments to gauge the strength of interactions based on the total number of paired-end reads mapped to a common...
2.
Niyonkuru E, Caufield J, Carmody L, Gargano M, Toro S, Whetzel P, et al.
medRxiv
. 2024 Sep;
PMID: 39228707
Structured representations of clinical data can support computational analysis of individuals and cohorts, and ontologies representing disease entities and phenotypic abnormalities are now commonly used for translational research. The Medical...
3.
Niyonkuru E, Gomez M, Casiraghi E, Antogiovanni S, Blau H, Reese J, et al.
bioRxiv
. 2024 Jul;
PMID: 39005436
Objectives: Concept embeddings are low-dimensional vector representations of concepts such as MeSH:D009203 (Myocardial Infarction), whose similarity in the embedded vector space reflects their semantic similarity. Here, we test the hypothesis...
4.
Coleman B, Casiraghi E, Callahan T, Blau H, Chan L, Laraway B, et al.
Transl Psychiatry
. 2024 Jun;
14(1):246.
PMID: 38851761
Acute COVID-19 infection can be followed by diverse clinical manifestations referred to as Post Acute Sequelae of SARS-CoV2 Infection (PASC). Studies have shown an increased risk of being diagnosed with...
5.
Amitai N, Stafler P, Blau H, Kaplan E, Mussaffi H, Levine H, et al.
Pediatr Pulmonol
. 2024 Jan;
59(4):997-1005.
PMID: 38240499
Background: Although extremely premature birth disrupts lung development, adolescent survivors of extreme prematurity show good clinical and physiologic outcomes. Cardiopulmonary limitations may not be clinically evident at rest. Data regarding...
6.
Dotan M, Blau H, Singer A, Stafler P, Prais D, Cohen-Cymberknoh M, et al.
J Cyst Fibros
. 2023 Nov;
23(4):782-787.
PMID: 37980178
Background: Population genetic carrier screening (PGCS) for cystic fibrosis (CF) has been offered to couples in Israel since 1999 and was included in a fully subsidized national program in 2008....
7.
Carmody L, Gargano M, Toro S, Vasilevsky N, Adam M, Blau H, et al.
Med
. 2023 Nov;
4(12):913-927.e3.
PMID: 37963467
Background: Navigating the clinical literature to determine the optimal clinical management for rare diseases presents significant challenges. We introduce the Medical Action Ontology (MAxO), an ontology specifically designed to organize...
8.
Gargano M, Matentzoglu N, Coleman B, Addo-Lartey E, Anagnostopoulos A, Anderton J, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1333-D1346.
PMID: 37953324
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses...
9.
Shmueli E, Gendler Y, Stafler P, Levine H, Steuer G, Bar-On O, et al.
J Clin Med
. 2023 Sep;
12(18).
PMID: 37762775
Background: Lung function deterioration in cystic fibrosis (CF) is typically measured by a decline in the forced expiratory volume in one second (FEV%), which is thought to be a late...
10.
Sundaramurthi J, Bagley A, Blau H, Carmody L, Crandall A, Danis D, et al.
Cold Spring Harb Mol Case Stud
. 2023 Sep;
9(4).
PMID: 37684057
We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 () missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral...