Associated Papers
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Gounder MM et al.
Nature Communications, 2022
35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_12.XLSX › Sheet1
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H et al.
Orphanet Journal of Rare Diseases, 2019
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
Epigenetic control of the immune system: a lesson from Kabuki syndrome.
Stagi S et al.
Immunologic Research, 2016
Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.
Lin JL et al.
Clinical Genetics, 2015
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
A mutation screen in patients with Kabuki syndrome.
Li Y et al.
Human Genetics, 2011
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Hannibal MC et al.
American Journal of Medical Genetics. Part A, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD et al.
Human Mutation, 2011
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB et al.
Nature Genetics, 2010
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