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Lista de obras de Lauren J. Francey

A database of tissue-specific rhythmically expressed human genes has potential applications in circadian medicine

article

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

article

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

artículo científico publicado en 2012

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations

article

KPNB1 mediates PER/CRY nuclear translocation and circadian clock function

artículo científico publicado en 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

Mechanistic insights into the events that lead to synergistic induction of interleukin 6 transcription upon activation of the aryl hydrocarbon receptor and inflammatory signaling.

artículo científico publicado en 2010

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders

artículo científico publicado en 2013

Role for LSM genes in the regulation of circadian rhythms

artículo científico publicado en 2014

Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections ⬇️

artículo científico publicado el 12 de mayo de 2013

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