Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk

Mosaicism in ASXL3-related syndrome: Description of five patients from three families

(2020) Schaida Schirwani et al.   European Journal of Medical Genetics

Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects

(2019) Jill A Fahrner et al.   HUMAN MOLECULAR GENETICS

Clonal hematopoiesis in human aging and disease

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

(2018) Emma Bedoukian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry

(2017) Kathryn R. Napier et al.   Orphanet Journal of Rare Diseases

The Role of Additional Sex Combs-Like Proteins in Cancer

(2016) Jean-Baptiste Micol et al.   Cold Spring Harbor Perspectives in Medicine

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

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