Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Alan MaSaira YousoofJohn R GriggMaree FlahertyAndre E MinocheMark J CowleyBenjamin M NashGladys HoThet GayagayTiffany LaiElizabeth FarnsworthEmma L HackettKatrina FiskKaren WongKatherine J HolmanGemma JenkinsAnson ChengFrank MartinTanya KaraconjiJames E ElderAnnabelle EnriquezMeredith WilsonDavid J AmorChloe A StutterdBenjamin KamienJohn NelsonMarcel E DingerBruce BennettsRobyn V Jamieson

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

We demonstrate the benefit of detailed phenotypic, genomic, variant, and segregation analysis to uncover some of the previously "hidden" heritable answers in several rarely reported and newly identified ocular ASD-related disease genes.

Keyphrases

genome wide
copy number
autism spectrum disorder
attention deficit hyperactivity disorder
dna methylation