Jillian M Felie
Overview
Explore the profile of Jillian M Felie including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
657
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Recent Articles
1.
Reiff R, Ali B, Baron B, Yu T, Ben-Salem S, Coulter M, et al.
Hum Mol Genet
. 2014 Feb;
23(13):3456-66.
PMID: 24501276
Whereas many genes associated with intellectual disability (ID) encode synaptic proteins, transcriptional defects leading to ID are less well understood. We studied a large, consanguineous pedigree of Arab origin with...
2.
Yu T, Chahrour M, Coulter M, Jiralerspong S, Okamura-Ikeda K, Ataman B, et al.
Neuron
. 2013 Jan;
77(2):259-73.
PMID: 23352163
Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of primarily simplex families have implicated de novo copy number changes...
3.
Mochida G, Ganesh V, de Michelena M, Dias H, Atabay K, Kathrein K, et al.
Nat Genet
. 2012 Oct;
44(11):1260-4.
PMID: 23023333
Charged multivesicular body protein 1A (CHMP1A; also known as chromatin-modifying protein 1A) is a member of the ESCRT-III (endosomal sorting complex required for transport-III) complex but is also suggested to...
4.
Ben-Omran T, Ali R, AlMureikhi M, Alameer S, Al-Saffar M, Walsh C, et al.
Am J Med Genet A
. 2011 Oct;
155A(11):2647-53.
PMID: 21964978
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouse-Sakati syndrome (WSS)] is a rare autosomal recessive neuroendocrine and ectodermal disorder. The syndrome was first described by...
5.
Alkuraya F, Cai X, Emery C, Mochida G, Al-Dosari M, Felie J, et al.
Am J Hum Genet
. 2011 May;
88(5):536-47.
PMID: 21529751
Genes disrupted in human microcephaly (meaning "small brain") define key regulators of neural progenitor proliferation and cell-fate specification. In comparison, genes mutated in human lissencephaly (lissos means smooth and cephalos...
6.
Mochida G, Ganesh V, Felie J, Gleason D, Hill R, Clapham K, et al.
Am J Hum Genet
. 2010 Nov;
87(6):882-9.
PMID: 21109224
The tight junction, or zonula occludens, is a specialized cell-cell junction that regulates epithelial and endothelial permeability, and it is an essential component of the blood-brain barrier in the cerebrovascular...
7.
Yu T, Mochida G, Tischfield D, Sgaier S, Flores-Sarnat L, Sergi C, et al.
Nat Genet
. 2010 Oct;
42(11):1015-20.
PMID: 20890278
Genes associated with human microcephaly, a condition characterized by a small brain, include critical regulators of proliferation, cell fate and DNA repair. We describe a syndrome of congenital microcephaly and...