Evan E Eichler
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Explore the profile of Evan E Eichler including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Haberman M, Kamyshinsky R, Reznik N, Yeshaya N, Khmelnitsky L, Plender E, et al.
Proc Natl Acad Sci U S A
. 2025 Mar;
122(10):e2419717122.
PMID: 40035770
Secreted mucins are multimegadalton glycoprotein polymers that share the function of protecting mucosal tissues but diversified for activities in different organs of the body. Structural studies of secreted mucins are...
2.
Zhang S, Xu N, Fu L, Yang X, Ma K, Li Y, et al.
Nature
. 2025 Feb;
PMID: 40011769
The crab-eating macaques (Macaca fascicularis) and rhesus macaques (Macaca mulatta) are pivotal in biomedical and evolutionary research. However, their genomic complexity and interspecies genetic differences remain unclear. Here, we present...
3.
Jana U, Rodriguez O, Lees W, Engelbrecht E, Vanwinkle Z, Vanwinkle Z, et al.
bioRxiv
. 2025 Feb;
PMID: 39990387
The immunoglobulin heavy chain constant (IGHC) domain of antibodies (Ab) is responsible for effector functions critical to Ab mediated immunity. In humans, this domain is encoded by genes within the...
4.
Prodanov T, Plender E, Seebohm G, Meuth S, Eichler E, Marschall T
bioRxiv
. 2025 Feb;
PMID: 39990346
The human genome contains numerous structurally-variable polymorphic loci, including several hundred disease-associated genes, almost inaccessible for accurate variant calling. Here we present Locityper, a tool capable of genotyping such challenging...
5.
Dishuck P, Munson K, Lewis A, Dougherty M, Underwood J, Harvey W, et al.
bioRxiv
. 2025 Feb;
PMID: 39975192
The (nuclear pore interacting protein) gene family has expanded to high copy number in humans and African apes where it has been subject to an excess of amino acid replacement...
6.
Rea H, Webb S, Kurtz-Nelson E, Hudac C, Bernier R, Miles C, et al.
Front Neurosci
. 2025 Jan;
18():1485499.
PMID: 39840013
Introduction: , a protein kinase located on human chromosome 21, plays a role in postembryonic neuronal development and degeneration. Alterations to have been consistently associated with cognitive functioning and neurodevelopmental...
7.
Jeong H, Dishuck P, Yoo D, Harvey W, Munson K, Lewis A, et al.
Nat Genet
. 2025 Jan;
57(2):390-401.
PMID: 39779957
Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by...
8.
Dawood M, Heavner B, Wheeler M, Ungar R, LoTempio J, Wiel L, et al.
ArXiv
. 2025 Jan;
PMID: 39764392
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing,...
9.
Flores-Aguilar L, Hamlett E, Araya P, Barone E, Bhattacharyya A, Carmona-Iragui M, et al.
Neuromolecular Med
. 2025 Jan;
27(1):5.
PMID: 39756004
Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research,...
10.
Micale L, Vourlia A, Fusco C, Pracella R, Karagiannis D, Nardella G, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39668184
Heterozygous deleterious null alleles and specific missense variants in the DNA-binding domain of the ETS2 repressor factor (ERF) cause craniosynostosis, while the recurrent p.(Tyr89Cys) missense variant is associated with Chitayat...