Eamonn Sheridan
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Explore the profile of Eamonn Sheridan including associated specialties, affiliations and a list of published articles.
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84
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3315
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Recent Articles
1.
Huang Q, Wigdor E, Malawsky D, Campbell P, Samocha K, Chundru V, et al.
Nature
. 2024 Nov;
636(8042):404-411.
PMID: 39567701
Although rare neurodevelopmental conditions have a large Mendelian component, common genetic variants also contribute to risk. However, little is known about how this polygenic risk is distributed among patients with...
2.
Chundru V, Zhang Z, Walter K, Lindsay S, Danecek P, Eberhardt R, et al.
Nat Genet
. 2024 Sep;
56(10):2046-2053.
PMID: 39313616
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of...
3.
Kiss R, Chicoine J, Khalil Y, Sladek R, Chen H, Pisaturo A, et al.
J Biol Chem
. 2023 Sep;
299(11):105295.
PMID: 37774976
Loss of functional RAB18 causes the autosomal recessive condition Warburg Micro syndrome. To better understand this disease, we used proximity biotinylation to generate an inventory of potential RAB18 effectors. A...
4.
Watson C, Jackson L, Crinnion L, Bonthron D, Sheridan E
J Med Genet
. 2022 Apr;
59(11):1082-1086.
PMID: 35414530
The ever-increasing capacity of short-read sequencing instruments is driving the adoption of whole genome sequencing (WGS) as a universal approach to the diagnosis of rare genetic disorders. However, many challenging...
5.
Arciero E, Dogra S, Malawsky D, Mezzavilla M, Tsismentzoglou T, Huang Q, et al.
Nat Commun
. 2021 Dec;
12(1):7189.
PMID: 34893604
Previous genetic and public health research in the Pakistani population has focused on the role of consanguinity in increasing recessive disease risk, but little is known about its recent population...
6.
Brown E, Watts I, Beales E, Maudhoo A, Hayward J, Sheridan E, et al.
Genet Med
. 2021 Apr;
23(8):1438-1449.
PMID: 33824502
Purpose: The COVID-19 pandemic has forced reorganization of clinical services to minimize face-to-face contact between patients and health-care providers. Specialist services, including clinical genetics, must consider methods of remote delivery...
7.
Chai G, Webb A, Li C, Antaki D, Lee S, Breuss M, et al.
Neuron
. 2020 Nov;
109(2):241-256.e9.
PMID: 33220177
Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving...
8.
Elpidorou M, Best S, Poulter J, Hartill V, Hobson E, Sheridan E, et al.
J Med Genet
. 2020 Jun;
58(5):334-341.
PMID: 32571899
Background: The gene encodes a 527 kDa E3 ubiquitin protein ligase that has key roles in cell cycle regulation, spindle formation during mitosis, mitochondrial functions and DNA damage responses. It...
9.
Sharif S, Blyth M, Ahmed M, Sheridan E, Saltus R, Yu J, et al.
J Genet Couns
. 2020 Apr;
29(2):282-292.
PMID: 32250032
Genomic knowledge and technology have developed rapidly over the last decade and increased our capabilities to diagnose and manage rare diseases. However, current genomic datasets lack ethnic diversity as many...
10.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, et al.
Genet Med
. 2020 Mar;
22(5):980.
PMID: 32203228
An amendment to this paper has been published and can be accessed via a link at the top of the paper.