Delineation of a new chromosome 20q11.2 duplication syndrome including theASXL1gene

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations

(2012) Pamela Magini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

(2011) Rob Hastings et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter

(2009) Maria Kirchhoff et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review

(2008) Pierre Blanc et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A