Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.
Tabib A et al.
European Journal of Medical Research, 2022
Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema.
Mukenge S et al.
Molecular Genetics & Genomic Medicine, 2020
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ et al.
Circulation Research, 2019
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC et al.
Nature Genetics, 2017
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Mendola A et al.
Molecular Syndromology, 2013
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Gordon K et al.
Human Mutation, 2013
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.
Ghalamkarpour A et al.
Journal of Medical Genetics, 2009
Milroy's primary congenital lymphedema in a male infant and review of the literature.
Kitsiou-Tzeli S et al.
In Vivo (athens, Greece), 0
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