» Authors » Ellen S Wilch

Ellen S Wilch

Explore the profile of Ellen S Wilch including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 4
Citations 59
Followers 0
Related Specialties
Top 10 Co-Authors
Published In
Affiliations
Soon will be listed here.
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...