Damian Smedley
Overview
Explore the profile of Damian Smedley including associated specialties, affiliations and a list of published articles.
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Articles
145
Citations
8197
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0
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Recent Articles
1.
Matentzoglu N, Bello S, Stefancsik R, Alghamdi S, Anagnostopoulos A, Balhoff J, et al.
Genetics
. 2025 Mar;
PMID: 40048704
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a...
2.
Cipriani V, Vestito L, Magavern E, Jacobsen J, Arno G, Behr E, et al.
Nature
. 2025 Feb;
PMID: 40011789
Up to 80% of rare disease patients remain undiagnosed after genomic sequencing, with many probably involving pathogenic variants in yet to be discovered disease-gene associations. To search for such associations,...
3.
Adli M, Przybyla L, Burdett T, Burridge P, Cacheiro P, Chang H, et al.
Nature
. 2025 Feb;
638(8050):351-359.
PMID: 39939790
Recent advances in functional genomics and human cellular models have substantially enhanced our understanding of the structure and regulation of the human genome. However, our grasp of the molecular functions...
4.
Holter S, Cacheiro P, Smedley D, Lloyd K
Mamm Genome
. 2025 Jan;
PMID: 39820486
No abstract available.
5.
Vestito L, Jacobsen J, Walker S, Cipriani V, Harris N, Haendel M, et al.
NPJ Genom Med
. 2024 Dec;
9(1):65.
PMID: 39695184
Whole genome sequencing has transformed rare disease research; however, 50-80% of rare disease patients remain undiagnosed after such testing. Regular reanalysis can identify new diagnoses, especially in newly discovered disease-gene...
6.
Beckwith M, Danis D, Bridges Y, Jacobsen J, Smedley D, Robinson P
Genet Med
. 2024 Oct;
27(1):101292.
PMID: 39396132
Purpose: Clinical intuition is commonly incorporated into the differential diagnosis as an assessment of the likelihood of candidate diagnoses based either on the patient population being seen in a specific...
7.
Danis D, Bamshad M, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody L, et al.
HGG Adv
. 2024 Oct;
6(1):100371.
PMID: 39394689
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual,...
8.
Matentzoglu N, Bello S, Stefancsik R, Alghamdi S, Anagnostopoulos A, Balhoff J, et al.
bioRxiv
. 2024 Sep;
PMID: 39345458
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a...
9.
Spielmann N, Miller G, Oprea T, Hsu C, Fobo G, Frishman G, et al.
Nat Cardiovasc Res
. 2024 Aug;
1(2):157-173.
PMID: 39195995
Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electrocardiography, transthoracic echocardiography...
10.
Reese J, Chimirri L, Bridges Y, Danis D, Caufield J, Wissink K, et al.
medRxiv
. 2024 Aug;
PMID: 39108510
Large language models (LLMs) show promise in supporting differential diagnosis, but their performance is challenging to evaluate due to the unstructured nature of their responses. To assess the current capabilities...