John J M Connolly

Publications (2)0 Total impact

• Article: Rare Genomic Deletions and Duplications and their Role in Neurodevelopmental Disorders.

  Joseph T Glessner, John J M Connolly, Hakon Hakonarson
  [show abstract] [hide abstract]
  ABSTRACT: Copy number variations (CNVs) are deletions and duplications of DNA sequences that vary in length from a few base pairs to several million. While these structural variations are often benign, they can disrupt vital biological functions and result in disease. CNVs have been identified as causal in a number of neurodevelopmental disorders (NDs), including but not limited to, autism, attention-deficit/hyperactivity disorder (ADHD), and schizophrenia. Here, we examine CNV research into these disorders, and discuss relevant methodological considerations. By identifying specific rare deletions and duplications, we may be better able to determine the etiology of neurodevelopmental disorders and identify appropriate treatments.
  Current topics in behavioral neurosciences. 01/2012; 12:345-60.
• Source

  Available from: Hakon Hakonarson

  Chapter: The Genetics of Autism Spectrum Disorders

  John J.M. Connolly, Hakon Hakonarson
  08/2011; , ISBN: 978-953-307-495-5