Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

Author:

Fieremans Nathalie12,Van Esch Hilde3,Holvoet Maureen3,Van Goethem Gert4,Devriendt Koenraad3,Rosello Monica5,Mayo Sonia5,Martinez Francisco5,Jhangiani Shalini6,Muzny Donna M.6,Gibbs Richard A.6,Lupski James R.6789,Vermeesch Joris R.3,Marynen Peter1,Froyen Guy1

Affiliation:

1. Human Genome Laboratory; Department of Human Genetics; KU Leuven Belgium

2. Human Genome Laboratory; VIB Center for the Biology of Disease; Leuven Belgium

3. Center for Human Genetics; University Hospitals Leuven; KU Leuven Leuven Belgium

4. Het GielsBos, Gierle, Belgium and Department of Neurology; University Hospital of Antwerp (UZA); Antwerp Belgium

5. Genetics Unit; Hospital Universitario y Politecnico La Fe; Valencia Spain

6. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

7. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

8. Department of Pediatrics; Baylor College of Medicine; Houston Texas

9. Texas Children's Hospital; Houston Texas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference68 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

3. X chromosome-inactivation patterns of 1,005 phenotypically unaffected females;Amos-Landgraf;Am J Hum Genet,2006

4. NGS-Logistics: federated analysis of NGS sequence variants across multiple locations;Ardeshirdavani;Genome Med,2014

5. RNF12 activates Xist and is essential for X chromosome inactivation;Barakat;PLoS Genet,2011

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