54 Result(s)
within
Evan E Eichler
Biomedicine
Biomedicine, general
Gene Function
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Article
Low copy number of the salivary amylase gene predisposes to obesity
Mario Falchi, Philippe Froguel and colleagues report association of a multi-allelic copy number variant encompassing the salivary amylase gene AMY1 with body mass index and risk of obesity.
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Article
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Frank Kooy, Nathalie Van der Aa and colleagues report that de novo mutations in ADNP cause a syndrome characterized by autism, intellectual disability and facial dysmorphisms. ADNP encodes a transcription factor ...
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Article
Estimating the human mutation rate using autozygosity in a founder population
Evan Eichler and colleagues report an estimate of the mutation rate in humans that is based on the whole-genome sequences of five parent-offspring trios from a Hutterite population and genoty** data from an ...
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Article
Structural diversity and African origin of the 17q21.31 inversion polymorphism
Evan Eichler and colleagues explore the structural diversity and ancestral origins of the 17q21.31 inversion region. They find that complex duplication architectures have arisen independently on both inversion...
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Article
Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Nat. Genet. 43, 585–589 (2011); published online 15 May 2011; corrected after print 9 March 2012 In the version of this article initially published, the missense variant in CNTNAP2 identified in proband 12817 ...
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Article
A copy number variation morbidity map of developmental delay
Evan Eichler and colleagues analyze copy number variation in 15,767 children with intellectual disability, developmental delay, congenital birth defects and/or other related phenotypes. They identify 59 likely...
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Article
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Evan Eichler, Jay Shendure and colleagues sequenced the exomes of 20 sporadic cases of autism spectrum disorder and their unaffected parents. They identified potentially causative de novo mutations in four cases,...
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Genome structural variation discovery and genoty**
Structural variation was originally defined as insertions, deletions and inversions greater than 1 kb in size, but with the sequencing of human genomes now bec...
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Article
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
Evan Eichler and colleagues identify a large, complex structural polymorphism at 16p12.1 in a region previously associated with neurocognitive disease. They further show that the region has experienced dynamic...
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Article
Missing heritability and strategies for finding the underlying causes of complex disease
Seven leading geneticists express their views about where the unidentified components of the heritability for complex human diseases might lie and how this could affect the underlying genetic architecture, as ...
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Article
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Evan Eichler and colleagues identify a recurrent microdeletion on 16p12.1 associated with developmental, cognitive and neuropsychiatric phenotypes. They also show that more severe phenotypes are frequently cor...
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Article
Personalized copy number and segmental duplication maps using next-generation sequencing
Evan Eichler and colleagues have developed an algorithm called mrFAST to map short, next-generation sequence reads across the genome that allows for the accurate prediction of copy-number variation.
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Article
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Thomas Sander and colleagues identify 15q13.3 microdeletions in 1% of individuals with idiopathic generalized epilepsy (IGE). The majority of these individuals do not show intellectual disability, schizophreni...
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Article
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
Xavier Estivill and colleagues report that deletion of the late cornified envelope LCE3C and LCE3B genes increases susceptibility to psoriasis, possibly through compromised skin barrier function.
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Article
Systematic assessment of copy number variant detection via genome-wide SNP genoty**
Evan Eichler and colleagues present an analysis of how well current commercial SNP platforms accurately capture copy number variants (CNVs). Although they were able accurately predict from Illumina Human 1M ge...
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Article
Human uniqueness: genome interactions with environment, behaviour and culture
'Anthropogeny' (explaining the origin of humans) requires a transdisciplinary approach that eschews disciplinary barriers and rejects artificial 'genes versus ...
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Article
Evolutionary toggling of the MAPT 17q21.31 inversion region
Evan Eichler and colleagues present a sequence assembly of the inverted H2 haplotype of human chromosome 17q21.31 and show that the inversion is polymorphic in other great ape species. Their analyses suggest t...
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Article
Mouse segmental duplication and copy number variation
Evan Eichler and colleagues assess copy number variation of the C57BL/6J duplicated regions in 15 mouse strains used for genetic association studies. They report that mice show comparable copy number polymorph...
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Article
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo dele...
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Article
Closing gaps in the human genome with fosmid resources generated from multiple individuals
The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. ...
