Associated Papers
Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.
Russell BE et al.
American Journal of Medical Genetics. Part A, 2023
The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.
Pettersson H et al.
Frontiers in Oncology, 2023
37637067 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table_1
A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.
Zhao W et al.
Frontiers in Pediatrics, 2021
Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia.
Balakrishna T et al.
Schizophrenia Bulletin, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
A de novo truncating mutation in ASXL1 associated with segmental overgrowth.
Efthymiou S et al.
Journal of Genetics, 2019
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Urreizti R et al.
Clinical Case Reports, 2018
The Role of Additional Sex Combs-Like Proteins in Cancer.
Micol JB et al.
Cold Spring Harbor Perspectives in Medicine, 2016
Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
Gelsi-Boyer V et al.
Journal of Hematology & Oncology, 2012
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Hoischen A et al.
Nature Genetics, 2011
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