Karynne E. Patterson

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This paper describes four syndromes of acquired dyslexia (that is, reading deficits in previously literate adults who have suffered neurological damage); deep dyslexia, surface dyslexia, phonological dyslexia and letter-by-letter reading. The format of the description inquires whether reading performance in each syndrome is (1) sensitive to dimensions of(More)
Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected to unaffected siblings, we show that 13% of de novo missense mutations and 43% of de novo likely(More)
PURPOSE The pace of Mendelian gene discovery is slowed by the "n-of-1 problem"-the difficulty of establishing the causality of a putatively pathogenic variant in a single person or family. Identification of an unrelated person with an overlapping phenotype and suspected pathogenic variant in the same gene can overcome this barrier, but it is often impeded(More)
Box 357371. CC-BY-NC-ND 4.0 International license peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was not. . CC-BY-NC-ND 4.0 International license peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was not. ABSTRACT Purpose: The pace(More)
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