A de novo paradigm for mental retardation

By L. Vissers, J. Ligt, C. Gilissen, I. Janssen, M. Steehouwer, P. D. Vries, B. V. Lier, P. Arts, Nienke Wieskamp, M. D. Rosario and 5 more. Nature Genetics, 2010

889 citations recorded by the source corpus.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/22a8ab3b479662d28df227e6ca418e2e4bfc9458

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Citations in the corpus

The Next-Generation Sequencing Revolution and Its Impact on Genomics (2013, positive): “Exome sequencing revealed rare de novo protein-altering mutations in seven of ten individuals with idiopathic intellectual disability (ID) affecting nine different genes (Vissers et al., 2010).”
Next generation sequencing technology: Advances and applications. (2014, background): “Parent–child trio analysis turned out to be very effective to reveal dominant de novo diseases [50], while recessive diseases can be revealed when several unrelated cases are available or when clearly damaging variants are present [51].”
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011, positive): “Similar to Vissers and colleagues 13 , who reported exome sequencing on 10 parent-child trios with sporadic cases of moderate to severe intellectual disability (ID), we performed exome sequencing on each of the 60 individuals separately, by subjecting whole-blood derived genomic DNA to in-solution…”
Genome Medicine: past, present and future (2011, background): “Further exome sequencing work recently documented that new mutations may contribute in a significant way to common traits such as mental retardation and intellectual disability [26].”
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data (2015, background): “The trio format is a common familial arrangement in sequencing studies undertaken to uncover the genetic basis for a known disease or to assist in disease diagnosis [39,40].”
Genomic diagnosis for children with intellectual disability and/or developmental delay (2016, background): “Our trio-based study design allows rapid identification of de novo variants, which are enriched among variants that are causally related to deleterious, pediatric phenotypes [29].”
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. (2017, background): “7 given that the majority of annotated variants in the Human Gene Mutation Database have such scores.(45) After application of these rules in family A, only 2 of 37 candidate variants segregated with the disease in the family (Table 2 and Table S3).”