Ellen S Wilch
Overview
Explore the profile of Ellen S Wilch including associated specialties, affiliations and a list of published articles.
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4
Citations
59
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Recent Articles
1.
Andersen R, Alkuraya I, Ajeesh A, Sakamoto T, Mena E, Amr S, et al.
Hum Genet
. 2024 Jul;
143(7):921-938.
PMID: 39060644
In recent years, there has been increased focus on exploring the role the non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which...
2.
Andersen R, Alkuraya I, Ajeesh A, Sakamoto T, Mena E, Amr S, et al.
medRxiv
. 2024 Jul;
PMID: 38946951
In recent years, there has been increased focus on exploring the role the non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which...
3.
Wilch E, Morton C
Adv Exp Med Biol
. 2018 Jun;
1044:1-14.
PMID: 29956287
Chromosomal translocations, rearrangements involving the exchange of segments between chromosomes, were documented in humans in 1959. The first accurately reported clinical phenotype resulting from a translocation was that of Down...
4.
Rehman A, Santos-Cortez R, Drummond M, Shahzad M, Lee K, Morell R, et al.
Eur J Hum Genet
. 2014 Dec;
23(9):1207-15.
PMID: 25491636
Next-generation sequencing (NGS) of exomes and genomes has accelerated the identification of genes involved in Mendelian phenotypes. However, many NGS studies fall short of identifying causal variants, with estimates for...