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Article

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

American journal of medical genetics. Part A - 1 Jul 2016

Millan Francisca, Cho Megan T, Retterer Kyle, Monaghan Kristin G, Bai Renkui, Vitazka Patrik, Everman David B, Smith Brooke, Angle Brad, Roberts Victoria, Immken LaDonna, Nagakura Honey, DiFazio Marc, Sherr Elliott, Haverfield Eden, Friedman Bethany, Telegrafi Aida, Juusola Jane, Chung Wendy K, Bale Sherri

Abstract excerpt

Neurodevelopmental disorders (NDD) are common, with 1-3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole-exome sequencing (WES) has proven to be a powerful tool for the identification of pathogenic variants leading to Mendelian disorders, among which NDD represent a significant percentage. Performing WES with a trio-approach has proven to be extremely...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27133397
DOI: 10.1002/ajmg.a.37670

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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