Resequencing at scale in neurodevelopmental disorders
نویسندگان
چکیده
منابع مشابه
Neurodevelopmental Disorders
The effective identification of neurodevelopmental disorders is essential for early diagnosis and provision of intervention services. For many of these conditions, one of the primary domains of abnormality is language development. This review addresses what is known about the earliest indicators of language impairment across a range of neurodevelopmental disorders; consideration is given to bot...
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Objective After the recent publication of the first patients with disease-associated missense variants in the GRIN2D gene, we evaluate the effect of copy number variants (CNVs) overlapping this gene toward the presentation of neurodevelopmental disorders (NDDs). Methods We explored ClinVar (number of CNVs = 50,794) and DECIPHER (number of CNVs = 28,085) clinical databases of genomic variation...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2017
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.3827