Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

(2017) Colleen M. Carlston et al.   HUMAN MUTATION

Expanding the clinical spectrum of recessive truncating mutations ofKLHL7to a Bohring-Opitz-like phenotype

(2017) Ange-Line Bruel et al.   JOURNAL OF MEDICAL GENETICS

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

(2015) Bianca Russell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bohring-Opitz syndrome (BOS) with a newASXL1pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

(2015) Silvana Beatriz Dangiolo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Expanding our knowledge of conditions associated with the ASXL gene family

(2013) Bianca Russell 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

Germline mosaicism in Cornelia de Lange syndrome

(2012) Thomas P. Slavin 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

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

(2010) J Boultwood et al.   LEUKEMIA