Associated Papers
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Blackburn PR et al.
European Journal of Human Genetics : Ejhg, 2019
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
Nixon TRW et al.
European Journal of Human Genetics : Ejhg, 2019
Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions.
Dalin MG et al.
Nature Communications, 2017
29084941 (PubMed )
Supplement: 41467_2017_1178_MOESM4_ESM.xlsx › Somatic_mutations
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM et al.
Human Genetics, 2011
Evaluation of germline BMP4 mutation as a cause of colorectal cancer.
Lubbe SJ et al.
Human Mutation, 2011
Select a paper to view details