David Lewis-Smith
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Explore the profile of David Lewis-Smith including associated specialties, affiliations and a list of published articles.
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27
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823
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Recent Articles
1.
Aledo-Serrano A, Lewis-Smith D, Leonard H, Bayat A, Junaid M, Hagebeuk E, et al.
medRxiv
. 2025 Jan;
PMID: 39867409
Knowledge of the natural history of deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical...
2.
Galer P, Parthasarathy S, Xian J, McKee J, Ruggiero S, Ganesan S, et al.
Genet Med
. 2024 Jul;
26(11):101211.
PMID: 39011766
Purpose: An early genetic diagnosis can guide the time-sensitive treatment of individuals with genetic epilepsies. However, most genetic diagnoses occur long after disease onset. We aimed to identify early clinical...
3.
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...
4.
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...
5.
Carmody L, Gargano M, Toro S, Vasilevsky N, Adam M, Blau H, et al.
medRxiv
. 2023 Jul;
PMID: 37503136
Navigating the vast landscape of clinical literature to find optimal treatments and management strategies can be a challenging task, especially for rare diseases. To address this task, we introduce the...
6.
Montanucci L, Lewis-Smith D, Collins R, Niestroj L, Parthasarathy S, Xian J, et al.
Nat Commun
. 2023 Jul;
14(1):4392.
PMID: 37474567
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from...
7.
Daniali M, Galer P, Lewis-Smith D, Parthasarathy S, Kim E, Salvucci D, et al.
Artif Intell Med
. 2023 Apr;
139:102523.
PMID: 37100502
The Human Phenotype Ontology (HPO) is a dictionary of >15,000 clinical phenotypic terms with defined semantic relationships, developed to standardize phenotypic analysis. Over the last decade, the HPO has been...
8.
Chen S, Abou-Khalil B, Afawi Z, Ali Q, Amadori E, Anderson A, et al.
medRxiv
. 2023 Mar;
PMID: 36865150
Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979...
9.
Parenti I, Leitao E, Kuechler A, Villard L, Goizet C, Courdier C, et al.
Front Cell Dev Biol
. 2022 Dec;
10:1019715.
PMID: 36568968
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on...
10.
McLeod F, Dimtsi A, Marshall A, Lewis-Smith D, Thomas R, Clowry G, et al.
Brain
. 2022 Oct;
146(3):850-857.
PMID: 36315647
Early infantile developmental and epileptic encephalopathies are devastating conditions, generally of genetic origin, but the pathological mechanisms often remain obscure. A major obstacle in this field of research is the...