Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice

(2013) J. Wang et al.   BLOOD

Functional Analysis of a De NovoACTBMutation in a Patient with Atypical Baraitser-Winter Syndrome

(2013) Jennifer J. Johnston et al.   HUMAN MUTATION

High rate of mosaicism in individuals with Cornelia de Lange syndrome

(2013) Sylvia A Huisman et al.   JOURNAL OF MEDICAL GENETICS

Expanding our knowledge of conditions associated with the ASXL gene family

(2013) Bianca Russell et al.   Genome Medicine

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

(2013) Matthew N Bainbridge et al.   Genome Medicine

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

ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression

(2012) Omar Abdel-Wahab et al.   CANCER CELL

The HARE-HTH and associated domains

(2012) L. Aravind et al.   CELL CYCLE

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

A case of probable Bohring–Opitz syndrome with medulloblastoma

(2010) Rob W.T. Hastings et al.   CLINICAL DYSMORPHOLOGY

Evolution of a patient with Bohring-Opitz syndrome

(2009) Sophie Pierron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice

(2009) C.L. Fisher et al.   DEVELOPMENTAL BIOLOGY