Ebony Richardson
Overview
Explore the profile of Ebony Richardson including associated specialties, affiliations and a list of published articles.
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17
Citations
152
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Recent Articles
1.
Ma J, ONeill M, Richardson E, Thomson K, Ingles J, Muhammad A, et al.
Circ Genom Precis Med
. 2024 Jul;
17(4):e004569.
PMID: 38953211
Background: Brugada syndrome is an inheritable arrhythmia condition that is associated with rare, loss-of-function variants in . Interpreting the pathogenicity of missense variants is challenging, and ≈79% of missense variants...
2.
Thomson K, Jiang C, Richardson E, Westphal D, Burkard T, Wolf C, et al.
HGG Adv
. 2024 Jan;
5(2):100270.
PMID: 38219013
Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes, there...
3.
Ma J, ONeill M, Richardson E, Thomson K, Ingles J, Muhammad A, et al.
medRxiv
. 2024 Jan;
PMID: 38196587
Brugada Syndrome (BrS) is an inheritable arrhythmia condition that is associated with rare, loss-of-function variants in the cardiac sodium channel gene, . Interpreting the pathogenicity of missense variants is challenging...
4.
Richardson E, McEwen A, Newton-John T, Jacobs C
Prenat Diagn
. 2023 Aug;
43(9):1150-1165.
PMID: 37526246
Objective: Understanding the value, benefits and harms of health interventions is needed to inform best practice and ensure responsible implementation of new approaches to patient care. Such value is demonstrated...
5.
Stafford F, Krishnan N, Richardson E, Butters A, Hespe S, Burns C, et al.
Genome Med
. 2022 Dec;
14(1):145.
PMID: 36578016
Background: The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of...
6.
Richardson E, McEwen A, Newton-John T, Crook A, Jacobs C
J Pers Med
. 2022 Aug;
12(8).
PMID: 36013258
There is significant heterogeneity in the outcomes assessed across studies of reproductive genetic carrier screening (RGCS). Only a small number of studies have measured patient-reported outcomes or included patients in...
7.
Ellingford J, Ahn J, Bagnall R, Baralle D, Barton S, Campbell C, et al.
Genome Med
. 2022 Jul;
14(1):73.
PMID: 35850704
Background: The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease...
8.
Jiang C, Richardson E, Farr J, Hill A, Ullah R, Kroncke B, et al.
Am J Hum Genet
. 2022 Jun;
109(7):1199-1207.
PMID: 35688147
Modern sequencing technologies have revolutionized our detection of gene variants. However, in most genes, including KCNH2, the majority of missense variants are currently classified as variants of uncertain significance (VUSs)....
9.
Richardson E, McEwen A, Newton-John T, Crook A, Jacobs C
Eur J Hum Genet
. 2022 Apr;
30(7):866-867.
PMID: 35422076
No abstract available.
10.
Richardson E, McEwen A, Newton-John T, Crook A, Jacobs C
Eur J Hum Genet
. 2022 Mar;
30(7):756-765.
PMID: 35347269
There is currently no consensus on the key outcomes of reproductive genetic carrier screening (RGCS). This has led to a large amount of variability in approaches to research, limiting direct...