Recessively Inherited Severe Aortic Aneurysm Caused by Mutated EFEMP2

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome

Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim et al. · The American Journal of Human Genetics · 2006 · 304 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

Ian Carr, Kimberley Flintoff, Graham R. Taylor et al. · Human Mutation · 2006 · 151 citations

Life Sciences, Genetics, Molecular Genetics +17

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Marjolijn Renard, Tammy M. Holm, Regan Veith et al. · European Journal of Human Genetics · 2010 · 151 citations · Full text

Medicine, Cardiology, Pathobiology +11

Compound heterozygous mutations in fibulin‐4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa

Majed Dasouki, Dessislava Markova, Robert E. Garola et al. · American Journal of Medical Genetics Part A · 2007 · 125 citations

Life Sciences, Genetics, Molecular Genetics +16